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b/demo/kgwas_101.ipynb |
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{ |
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"cells": [ |
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{ |
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"cell_type": "markdown", |
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"metadata": {}, |
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"source": [ |
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"## Basic API Usage of KGWAS\n", |
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"\n", |
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"KGWAS consists of two main class `KGWAS` and `KGWAS_Data`. `KGWAS` is the main class for the KGWAS model, and `KGWAS_Data` is the class for the data manipulation. In default, to ensure fast user experience, we provide a default fast mode of KGWAS, which uses Enformer embedding for variant feature and ESM embedding for gene features (instead of the baselineLD for variant and PoPS for gene since they are large files). For the fast mode, you do not need to download any data, the KGWAS API will automatically download the relevant files. This mode can be used to apply KGWAS to your own GWAS sumstats. " |
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] |
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}, |
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{ |
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"cell_type": "code", |
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"execution_count": 1, |
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"metadata": {}, |
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"outputs": [ |
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{ |
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"name": "stdout", |
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"output_type": "stream", |
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"text": [ |
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"All required data files are present.\n", |
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"--loading KG---\n", |
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"--using enformer SNP embedding--\n", |
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"--using random go embedding--\n", |
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"--using ESM gene embedding--\n" |
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] |
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} |
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], |
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"source": [ |
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"import sys\n", |
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"sys.path.append('../')\n", |
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"\n", |
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"from kgwas import KGWAS, KGWAS_Data\n", |
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"data = KGWAS_Data(data_path = './data/')\n", |
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"data.load_kg()" |
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] |
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}, |
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{ |
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"cell_type": "markdown", |
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"metadata": {}, |
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"source": [ |
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"Now, the data needed for training is downloaded from the server and the knowledge graph is loaded. Next, we load the GWAS file. Here, we are using an example GWAS file, which is also automatically downloaded from the server. But you can also use your own GWAS file. The GWAS file should be in the format of a pandas DataFrame with columns `CHR`/`#CHROM`, `SNP`, `P`, `N`. Note that at the moment, our knowledge graph is UKBioBank directly genotyped variant set so it will automatically takes the overlap with the KG. Current efforts are underway for improving the coverage of the KG." |
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] |
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}, |
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{ |
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"cell_type": "code", |
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"execution_count": 2, |
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"metadata": {}, |
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"outputs": [ |
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{ |
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"name": "stdout", |
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"output_type": "stream", |
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"text": [ |
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"Loading example GWAS file...\n", |
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"Example file already exists locally.\n", |
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"Loading GWAS file from ./data/biochemistry_Creatinine_fastgwa_full_10000_1.fastGWA...\n", |
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"Number of SNPs in the KG: 784256\n", |
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"Number of SNPs in the GWAS: 542758\n", |
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"Number of SNPs in the KG variant set: 542758\n", |
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"Using ldsc weight...\n", |
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"ldsc_weight mean: 0.9999999999999993\n" |
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] |
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} |
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], |
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"source": [ |
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"data.load_external_gwas(example_file = True)\n", |
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"data.process_gwas_file()\n", |
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"data.prepare_split()" |
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] |
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}, |
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{ |
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"cell_type": "code", |
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"execution_count": 3, |
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"metadata": {}, |
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"outputs": [ |
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{ |
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"data": { |
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"text/html": [ |
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"<div>\n", |
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"<style scoped>\n", |
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" .dataframe tbody tr th:only-of-type {\n", |
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" vertical-align: middle;\n", |
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" }\n", |
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"\n", |
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" .dataframe tbody tr th {\n", |
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" }\n", |
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"</style>\n", |
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" <thead>\n", |
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" <tr style=\"text-align: right;\">\n", |
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" <th></th>\n", |
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" <th>#CHROM</th>\n", |
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" <th>ID</th>\n", |
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" <th>POS</th>\n", |
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" <th>A1</th>\n", |
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" <th>A2</th>\n", |
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" <th>N</th>\n", |
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" <th>AF1</th>\n", |
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" <th>BETA</th>\n", |
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" <th>SE</th>\n", |
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" <th>P</th>\n", |
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" <th>ld_score</th>\n", |
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" <th>w_ld_score</th>\n", |
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" <th>y</th>\n", |
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" </tr>\n", |
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" <th>0</th>\n", |
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" <td>1</td>\n", |
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" <td>rs3131962</td>\n", |
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" <td>756604</td>\n", |
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" <td>A</td>\n", |
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" <td>G</td>\n", |
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" <td>9988</td>\n", |
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121 |
" <td>0.131007</td>\n", |
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" <td>-0.117134</td>\n", |
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" <td>0.246231</td>\n", |
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" <td>0.634282</td>\n", |
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" <td>72.862240</td>\n", |
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" <td>1</td>\n", |
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" <td>rs12562034</td>\n", |
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" <td>768448</td>\n", |
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" <td>A</td>\n", |
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" <td>G</td>\n", |
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" <td>9978</td>\n", |
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" <td>34.749233</td>\n", |
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" <td>1.877341</td>\n", |
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" <td>0.056197</td>\n", |
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" </tr>\n", |
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" <tr>\n", |
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" <th>2</th>\n", |
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" <td>1</td>\n", |
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" <td>rs4040617</td>\n", |
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" <td>779322</td>\n", |
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" <td>G</td>\n", |
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" <td>A</td>\n", |
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" <td>9975</td>\n", |
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" <td>0.129123</td>\n", |
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" <td>-0.001462</td>\n", |
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155 |
" <td>0.247254</td>\n", |
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156 |
" <td>0.995281</td>\n", |
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157 |
" <td>72.271390</td>\n", |
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158 |
" <td>4.208873</td>\n", |
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159 |
" <td>0.000035</td>\n", |
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" </tr>\n", |
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" <tr>\n", |
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" <th>3</th>\n", |
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" <td>1</td>\n", |
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" <td>rs79373928</td>\n", |
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" <td>801536</td>\n", |
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166 |
" <td>G</td>\n", |
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" <td>T</td>\n", |
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168 |
" <td>9994</td>\n", |
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169 |
" <td>0.014659</td>\n", |
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170 |
" <td>0.081544</td>\n", |
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171 |
" <td>0.688261</td>\n", |
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" <td>0.905688</td>\n", |
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" <td>16.740126</td>\n", |
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" <td>1.949177</td>\n", |
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" <td>0.014037</td>\n", |
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176 |
" </tr>\n", |
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" <tr>\n", |
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178 |
" <th>4</th>\n", |
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" <td>1</td>\n", |
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" <td>rs11240779</td>\n", |
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181 |
" <td>808631</td>\n", |
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182 |
" <td>G</td>\n", |
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183 |
" <td>A</td>\n", |
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" <td>9919</td>\n", |
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185 |
" <td>0.226737</td>\n", |
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186 |
" <td>-0.184268</td>\n", |
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187 |
" <td>0.198982</td>\n", |
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188 |
" <td>0.354418</td>\n", |
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189 |
" <td>50.215000</td>\n", |
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190 |
" <td>2.825456</td>\n", |
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191 |
" <td>0.857575</td>\n", |
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" </tr>\n", |
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" <td>...</td>\n", |
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" <td>...</td>\n", |
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" <td>...</td>\n", |
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" <td>...</td>\n", |
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" <td>...</td>\n", |
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" <td>...</td>\n", |
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202 |
" <td>...</td>\n", |
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203 |
" <td>...</td>\n", |
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204 |
" <td>...</td>\n", |
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205 |
" <td>...</td>\n", |
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206 |
" <td>...</td>\n", |
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207 |
" <td>...</td>\n", |
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208 |
" </tr>\n", |
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209 |
" <tr>\n", |
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210 |
" <th>542753</th>\n", |
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211 |
" <td>22</td>\n", |
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212 |
" <td>rs73174435</td>\n", |
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213 |
" <td>51174939</td>\n", |
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214 |
" <td>T</td>\n", |
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215 |
" <td>C</td>\n", |
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216 |
" <td>9979</td>\n", |
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217 |
" <td>0.056118</td>\n", |
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218 |
" <td>-0.158762</td>\n", |
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219 |
" <td>0.362390</td>\n", |
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220 |
" <td>0.661316</td>\n", |
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221 |
" <td>21.981667</td>\n", |
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222 |
" <td>1.363001</td>\n", |
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223 |
" <td>0.191929</td>\n", |
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|
224 |
" </tr>\n", |
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225 |
" <tr>\n", |
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226 |
" <th>542754</th>\n", |
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227 |
" <td>22</td>\n", |
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228 |
" <td>rs3810648</td>\n", |
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" <td>51175626</td>\n", |
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230 |
" <td>G</td>\n", |
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231 |
" <td>A</td>\n", |
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232 |
" <td>9931</td>\n", |
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233 |
" <td>0.058856</td>\n", |
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234 |
" <td>0.272493</td>\n", |
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235 |
" <td>0.352508</td>\n", |
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236 |
" <td>0.439515</td>\n", |
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237 |
" <td>34.619377</td>\n", |
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238 |
" <td>1.804193</td>\n", |
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239 |
" <td>0.597548</td>\n", |
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240 |
" </tr>\n", |
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241 |
" <tr>\n", |
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242 |
" <th>542755</th>\n", |
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243 |
" <td>22</td>\n", |
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244 |
" <td>rs5771002</td>\n", |
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245 |
" <td>51183255</td>\n", |
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246 |
" <td>A</td>\n", |
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247 |
" <td>G</td>\n", |
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248 |
" <td>9840</td>\n", |
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249 |
" <td>0.333638</td>\n", |
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250 |
" <td>0.116325</td>\n", |
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251 |
" <td>0.175675</td>\n", |
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252 |
" <td>0.507869</td>\n", |
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253 |
" <td>16.231083</td>\n", |
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254 |
" <td>1.273770</td>\n", |
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|
255 |
" <td>0.438456</td>\n", |
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256 |
" </tr>\n", |
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257 |
" <tr>\n", |
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258 |
" <th>542756</th>\n", |
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259 |
" <td>22</td>\n", |
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|
260 |
" <td>rs3865764</td>\n", |
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" <td>51185848</td>\n", |
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262 |
" <td>G</td>\n", |
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263 |
" <td>A</td>\n", |
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|
264 |
" <td>9974</td>\n", |
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|
265 |
" <td>0.051133</td>\n", |
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|
266 |
" <td>-0.026670</td>\n", |
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|
267 |
" <td>0.376132</td>\n", |
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|
268 |
" <td>0.943472</td>\n", |
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|
269 |
" <td>18.649513</td>\n", |
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|
270 |
" <td>1.010000</td>\n", |
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|
271 |
" <td>0.005028</td>\n", |
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|
272 |
" </tr>\n", |
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|
273 |
" <tr>\n", |
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|
274 |
" <th>542757</th>\n", |
|
|
275 |
" <td>22</td>\n", |
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|
276 |
" <td>rs142680588</td>\n", |
|
|
277 |
" <td>51193629</td>\n", |
|
|
278 |
" <td>G</td>\n", |
|
|
279 |
" <td>A</td>\n", |
|
|
280 |
" <td>9981</td>\n", |
|
|
281 |
" <td>0.076595</td>\n", |
|
|
282 |
" <td>-0.109532</td>\n", |
|
|
283 |
" <td>0.312971</td>\n", |
|
|
284 |
" <td>0.726358</td>\n", |
|
|
285 |
" <td>52.471287</td>\n", |
|
|
286 |
" <td>1.873861</td>\n", |
|
|
287 |
" <td>0.122482</td>\n", |
|
|
288 |
" </tr>\n", |
|
|
289 |
" </tbody>\n", |
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|
290 |
"</table>\n", |
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291 |
"<p>542758 rows × 13 columns</p>\n", |
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"</div>" |
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], |
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"text/plain": [ |
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" #CHROM ID POS A1 A2 N AF1 BETA \\\n", |
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296 |
"0 1 rs3131962 756604 A G 9988 0.131007 -0.117134 \n", |
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297 |
"1 1 rs12562034 768448 A G 9978 0.104981 -0.064894 \n", |
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298 |
"2 1 rs4040617 779322 G A 9975 0.129123 -0.001462 \n", |
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299 |
"3 1 rs79373928 801536 G T 9994 0.014659 0.081544 \n", |
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300 |
"4 1 rs11240779 808631 G A 9919 0.226737 -0.184268 \n", |
|
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301 |
"... ... ... ... .. .. ... ... ... \n", |
|
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302 |
"542753 22 rs73174435 51174939 T C 9979 0.056118 -0.158762 \n", |
|
|
303 |
"542754 22 rs3810648 51175626 G A 9931 0.058856 0.272493 \n", |
|
|
304 |
"542755 22 rs5771002 51183255 A G 9840 0.333638 0.116325 \n", |
|
|
305 |
"542756 22 rs3865764 51185848 G A 9974 0.051133 -0.026670 \n", |
|
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306 |
"542757 22 rs142680588 51193629 G A 9981 0.076595 -0.109532 \n", |
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307 |
"\n", |
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|
308 |
" SE P ld_score w_ld_score y \n", |
|
|
309 |
"0 0.246231 0.634282 72.862240 4.474788 0.226298 \n", |
|
|
310 |
"1 0.273746 0.812611 34.749233 1.877341 0.056197 \n", |
|
|
311 |
"2 0.247254 0.995281 72.271390 4.208873 0.000035 \n", |
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312 |
"3 0.688261 0.905688 16.740126 1.949177 0.014037 \n", |
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313 |
"4 0.198982 0.354418 50.215000 2.825456 0.857575 \n", |
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314 |
"... ... ... ... ... ... \n", |
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315 |
"542753 0.362390 0.661316 21.981667 1.363001 0.191929 \n", |
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|
316 |
"542754 0.352508 0.439515 34.619377 1.804193 0.597548 \n", |
|
|
317 |
"542755 0.175675 0.507869 16.231083 1.273770 0.438456 \n", |
|
|
318 |
"542756 0.376132 0.943472 18.649513 1.010000 0.005028 \n", |
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|
319 |
"542757 0.312971 0.726358 52.471287 1.873861 0.122482 \n", |
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"\n", |
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"[542758 rows x 13 columns]" |
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] |
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}, |
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"execution_count": 3, |
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"metadata": {}, |
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"output_type": "execute_result" |
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} |
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], |
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"source": [ |
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"data.lr_uni" |
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337 |
"Next, we are ready to train the model! Here we are using epoch = 1 for the demo purpose, but in reality, you should use a higher number of epochs for better performance." |
|
|
338 |
] |
|
|
339 |
}, |
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|
340 |
{ |
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|
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"cell_type": "code", |
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"execution_count": 4, |
|
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"metadata": {}, |
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"outputs": [ |
|
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345 |
{ |
|
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346 |
"name": "stderr", |
|
|
347 |
"output_type": "stream", |
|
|
348 |
"text": [ |
|
|
349 |
"Creating data loader...\n", |
|
|
350 |
"Start Training...\n", |
|
|
351 |
"Training Progress Epoch 1/1: 52%|█████▏ | 500/956 [12:56<15:47, 2.08s/it]Epoch 1 Step 501 Train Loss: 1.8115\n", |
|
|
352 |
"Training Progress Epoch 1/1: 100%|██████████| 956/956 [24:26<00:00, 1.53s/it]\n", |
|
|
353 |
"100%|██████████| 50/50 [00:58<00:00, 1.17s/it]\n", |
|
|
354 |
"Epoch 1: Validation MSE: 2.1730 Validation Pearson: 0.0096. \n", |
|
|
355 |
"Saving models to ./data//model/test\n", |
|
|
356 |
"100%|██████████| 54/54 [00:56<00:00, 1.04s/it]\n", |
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|
357 |
"100%|██████████| 1061/1061 [05:40<00:00, 3.11it/s]\n" |
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|
358 |
] |
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359 |
}, |
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360 |
{ |
|
|
361 |
"name": "stdout", |
|
|
362 |
"output_type": "stream", |
|
|
363 |
"text": [ |
|
|
364 |
"KGWAS prediction and p-values saved to ./data//model_pred/new_experiments/test_pred.csv\n" |
|
|
365 |
] |
|
|
366 |
} |
|
|
367 |
], |
|
|
368 |
"source": [ |
|
|
369 |
"run = KGWAS(data, device = 'cuda:9', exp_name = 'test')\n", |
|
|
370 |
"run.initialize_model()\n", |
|
|
371 |
"run.train(epoch = 1)" |
|
|
372 |
] |
|
|
373 |
}, |
|
|
374 |
{ |
|
|
375 |
"cell_type": "markdown", |
|
|
376 |
"metadata": {}, |
|
|
377 |
"source": [ |
|
|
378 |
"The output of the model is saved to `/model_pred/new_experiments/{exp_name}_pred.csv`. You can also load it via `run.kgwas_res`. The model is also saved to `/model/{exp_name}`." |
|
|
379 |
] |
|
|
380 |
}, |
|
|
381 |
{ |
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382 |
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" <tr style=\"text-align: right;\">\n", |
|
|
406 |
" <th></th>\n", |
|
|
407 |
" <th>#CHROM</th>\n", |
|
|
408 |
" <th>ID</th>\n", |
|
|
409 |
" <th>POS</th>\n", |
|
|
410 |
" <th>A1</th>\n", |
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411 |
" <th>A2</th>\n", |
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412 |
" <th>N</th>\n", |
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413 |
" <th>AF1</th>\n", |
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414 |
" <th>BETA</th>\n", |
|
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415 |
" <th>SE</th>\n", |
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|
416 |
" <th>P</th>\n", |
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|
417 |
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|
418 |
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|
419 |
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420 |
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421 |
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425 |
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|
|
427 |
" <th>0</th>\n", |
|
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428 |
" <td>1</td>\n", |
|
|
429 |
" <td>rs3131962</td>\n", |
|
|
430 |
" <td>756604</td>\n", |
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431 |
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|
|
432 |
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|
|
433 |
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|
434 |
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|
435 |
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436 |
" <td>0.246231</td>\n", |
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437 |
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438 |
" <td>72.862240</td>\n", |
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439 |
" <td>4.474788</td>\n", |
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440 |
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441 |
" <td>1.082365</td>\n", |
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442 |
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443 |
" <td>0.346428</td>\n", |
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444 |
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445 |
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446 |
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447 |
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448 |
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449 |
" <td>768448</td>\n", |
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450 |
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|
451 |
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|
452 |
" <td>9978</td>\n", |
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|
453 |
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|
454 |
" <td>-0.064894</td>\n", |
|
|
455 |
" <td>0.273746</td>\n", |
|
|
456 |
" <td>0.812611</td>\n", |
|
|
457 |
" <td>34.749233</td>\n", |
|
|
458 |
" <td>1.877341</td>\n", |
|
|
459 |
" <td>0.056197</td>\n", |
|
|
460 |
" <td>1.087724</td>\n", |
|
|
461 |
" <td>0.382894</td>\n", |
|
|
462 |
" <td>0.566456</td>\n", |
|
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463 |
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|
464 |
" <tr>\n", |
|
|
465 |
" <th>2</th>\n", |
|
|
466 |
" <td>1</td>\n", |
|
|
467 |
" <td>rs4040617</td>\n", |
|
|
468 |
" <td>779322</td>\n", |
|
|
469 |
" <td>G</td>\n", |
|
|
470 |
" <td>A</td>\n", |
|
|
471 |
" <td>9975</td>\n", |
|
|
472 |
" <td>0.129123</td>\n", |
|
|
473 |
" <td>-0.001462</td>\n", |
|
|
474 |
" <td>0.247254</td>\n", |
|
|
475 |
" <td>0.995281</td>\n", |
|
|
476 |
" <td>72.271390</td>\n", |
|
|
477 |
" <td>4.208873</td>\n", |
|
|
478 |
" <td>0.000035</td>\n", |
|
|
479 |
" <td>1.058530</td>\n", |
|
|
480 |
" <td>0.995281</td>\n", |
|
|
481 |
" <td>1</td>\n", |
|
|
482 |
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|
|
483 |
" <tr>\n", |
|
|
484 |
" <th>3</th>\n", |
|
|
485 |
" <td>1</td>\n", |
|
|
486 |
" <td>rs79373928</td>\n", |
|
|
487 |
" <td>801536</td>\n", |
|
|
488 |
" <td>G</td>\n", |
|
|
489 |
" <td>T</td>\n", |
|
|
490 |
" <td>9994</td>\n", |
|
|
491 |
" <td>0.014659</td>\n", |
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|
492 |
" <td>0.081544</td>\n", |
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|
493 |
" <td>0.688261</td>\n", |
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|
494 |
" <td>0.905688</td>\n", |
|
|
495 |
" <td>16.740126</td>\n", |
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|
496 |
" <td>1.949177</td>\n", |
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|
497 |
" <td>0.014037</td>\n", |
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|
498 |
" <td>1.105125</td>\n", |
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|
499 |
" <td>0.225107</td>\n", |
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|
500 |
" <td>0.333025</td>\n", |
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|
501 |
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|
502 |
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|
|
503 |
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|
504 |
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505 |
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|
506 |
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507 |
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508 |
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509 |
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510 |
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|
511 |
" <td>-0.184268</td>\n", |
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|
512 |
" <td>0.198982</td>\n", |
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|
513 |
" <td>0.354418</td>\n", |
|
|
514 |
" <td>50.215000</td>\n", |
|
|
515 |
" <td>2.825456</td>\n", |
|
|
516 |
" <td>0.857575</td>\n", |
|
|
517 |
" <td>1.081468</td>\n", |
|
|
518 |
" <td>0.041646</td>\n", |
|
|
519 |
" <td>0.061612</td>\n", |
|
|
520 |
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|
521 |
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|
|
522 |
" <th>...</th>\n", |
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|
523 |
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|
|
524 |
" <td>...</td>\n", |
|
|
525 |
" <td>...</td>\n", |
|
|
526 |
" <td>...</td>\n", |
|
|
527 |
" <td>...</td>\n", |
|
|
528 |
" <td>...</td>\n", |
|
|
529 |
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|
|
530 |
" <td>...</td>\n", |
|
|
531 |
" <td>...</td>\n", |
|
|
532 |
" <td>...</td>\n", |
|
|
533 |
" <td>...</td>\n", |
|
|
534 |
" <td>...</td>\n", |
|
|
535 |
" <td>...</td>\n", |
|
|
536 |
" <td>...</td>\n", |
|
|
537 |
" <td>...</td>\n", |
|
|
538 |
" <td>...</td>\n", |
|
|
539 |
" </tr>\n", |
|
|
540 |
" <tr>\n", |
|
|
541 |
" <th>542753</th>\n", |
|
|
542 |
" <td>22</td>\n", |
|
|
543 |
" <td>rs73174435</td>\n", |
|
|
544 |
" <td>51174939</td>\n", |
|
|
545 |
" <td>T</td>\n", |
|
|
546 |
" <td>C</td>\n", |
|
|
547 |
" <td>9979</td>\n", |
|
|
548 |
" <td>0.056118</td>\n", |
|
|
549 |
" <td>-0.158762</td>\n", |
|
|
550 |
" <td>0.362390</td>\n", |
|
|
551 |
" <td>0.661316</td>\n", |
|
|
552 |
" <td>21.981667</td>\n", |
|
|
553 |
" <td>1.363001</td>\n", |
|
|
554 |
" <td>0.191929</td>\n", |
|
|
555 |
" <td>1.008835</td>\n", |
|
|
556 |
" <td>0.233609</td>\n", |
|
|
557 |
" <td>0.345602</td>\n", |
|
|
558 |
" </tr>\n", |
|
|
559 |
" <tr>\n", |
|
|
560 |
" <th>542754</th>\n", |
|
|
561 |
" <td>22</td>\n", |
|
|
562 |
" <td>rs3810648</td>\n", |
|
|
563 |
" <td>51175626</td>\n", |
|
|
564 |
" <td>G</td>\n", |
|
|
565 |
" <td>A</td>\n", |
|
|
566 |
" <td>9931</td>\n", |
|
|
567 |
" <td>0.058856</td>\n", |
|
|
568 |
" <td>0.272493</td>\n", |
|
|
569 |
" <td>0.352508</td>\n", |
|
|
570 |
" <td>0.439515</td>\n", |
|
|
571 |
" <td>34.619377</td>\n", |
|
|
572 |
" <td>1.804193</td>\n", |
|
|
573 |
" <td>0.597548</td>\n", |
|
|
574 |
" <td>1.034187</td>\n", |
|
|
575 |
" <td>0.439515</td>\n", |
|
|
576 |
" <td>0.650221</td>\n", |
|
|
577 |
" </tr>\n", |
|
|
578 |
" <tr>\n", |
|
|
579 |
" <th>542755</th>\n", |
|
|
580 |
" <td>22</td>\n", |
|
|
581 |
" <td>rs5771002</td>\n", |
|
|
582 |
" <td>51183255</td>\n", |
|
|
583 |
" <td>A</td>\n", |
|
|
584 |
" <td>G</td>\n", |
|
|
585 |
" <td>9840</td>\n", |
|
|
586 |
" <td>0.333638</td>\n", |
|
|
587 |
" <td>0.116325</td>\n", |
|
|
588 |
" <td>0.175675</td>\n", |
|
|
589 |
" <td>0.507869</td>\n", |
|
|
590 |
" <td>16.231083</td>\n", |
|
|
591 |
" <td>1.273770</td>\n", |
|
|
592 |
" <td>0.438456</td>\n", |
|
|
593 |
" <td>1.093221</td>\n", |
|
|
594 |
" <td>0.449038</td>\n", |
|
|
595 |
" <td>0.66431</td>\n", |
|
|
596 |
" </tr>\n", |
|
|
597 |
" <tr>\n", |
|
|
598 |
" <th>542756</th>\n", |
|
|
599 |
" <td>22</td>\n", |
|
|
600 |
" <td>rs3865764</td>\n", |
|
|
601 |
" <td>51185848</td>\n", |
|
|
602 |
" <td>G</td>\n", |
|
|
603 |
" <td>A</td>\n", |
|
|
604 |
" <td>9974</td>\n", |
|
|
605 |
" <td>0.051133</td>\n", |
|
|
606 |
" <td>-0.026670</td>\n", |
|
|
607 |
" <td>0.376132</td>\n", |
|
|
608 |
" <td>0.943472</td>\n", |
|
|
609 |
" <td>18.649513</td>\n", |
|
|
610 |
" <td>1.010000</td>\n", |
|
|
611 |
" <td>0.005028</td>\n", |
|
|
612 |
" <td>0.987747</td>\n", |
|
|
613 |
" <td>0.943472</td>\n", |
|
|
614 |
" <td>1</td>\n", |
|
|
615 |
" </tr>\n", |
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|
616 |
" <tr>\n", |
|
|
617 |
" <th>542757</th>\n", |
|
|
618 |
" <td>22</td>\n", |
|
|
619 |
" <td>rs142680588</td>\n", |
|
|
620 |
" <td>51193629</td>\n", |
|
|
621 |
" <td>G</td>\n", |
|
|
622 |
" <td>A</td>\n", |
|
|
623 |
" <td>9981</td>\n", |
|
|
624 |
" <td>0.076595</td>\n", |
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|
625 |
" <td>-0.109532</td>\n", |
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|
626 |
" <td>0.312971</td>\n", |
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|
627 |
" <td>0.726358</td>\n", |
|
|
628 |
" <td>52.471287</td>\n", |
|
|
629 |
" <td>1.873861</td>\n", |
|
|
630 |
" <td>0.122482</td>\n", |
|
|
631 |
" <td>1.082649</td>\n", |
|
|
632 |
" <td>0.26816</td>\n", |
|
|
633 |
" <td>0.396718</td>\n", |
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|
634 |
" </tr>\n", |
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635 |
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636 |
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637 |
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638 |
"</div>" |
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639 |
], |
|
|
640 |
"text/plain": [ |
|
|
641 |
" #CHROM ID POS A1 A2 N AF1 BETA \\\n", |
|
|
642 |
"0 1 rs3131962 756604 A G 9988 0.131007 -0.117134 \n", |
|
|
643 |
"1 1 rs12562034 768448 A G 9978 0.104981 -0.064894 \n", |
|
|
644 |
"2 1 rs4040617 779322 G A 9975 0.129123 -0.001462 \n", |
|
|
645 |
"3 1 rs79373928 801536 G T 9994 0.014659 0.081544 \n", |
|
|
646 |
"4 1 rs11240779 808631 G A 9919 0.226737 -0.184268 \n", |
|
|
647 |
"... ... ... ... .. .. ... ... ... \n", |
|
|
648 |
"542753 22 rs73174435 51174939 T C 9979 0.056118 -0.158762 \n", |
|
|
649 |
"542754 22 rs3810648 51175626 G A 9931 0.058856 0.272493 \n", |
|
|
650 |
"542755 22 rs5771002 51183255 A G 9840 0.333638 0.116325 \n", |
|
|
651 |
"542756 22 rs3865764 51185848 G A 9974 0.051133 -0.026670 \n", |
|
|
652 |
"542757 22 rs142680588 51193629 G A 9981 0.076595 -0.109532 \n", |
|
|
653 |
"\n", |
|
|
654 |
" SE P ld_score w_ld_score y pred \\\n", |
|
|
655 |
"0 0.246231 0.634282 72.862240 4.474788 0.226298 1.082365 \n", |
|
|
656 |
"1 0.273746 0.812611 34.749233 1.877341 0.056197 1.087724 \n", |
|
|
657 |
"2 0.247254 0.995281 72.271390 4.208873 0.000035 1.058530 \n", |
|
|
658 |
"3 0.688261 0.905688 16.740126 1.949177 0.014037 1.105125 \n", |
|
|
659 |
"4 0.198982 0.354418 50.215000 2.825456 0.857575 1.081468 \n", |
|
|
660 |
"... ... ... ... ... ... ... \n", |
|
|
661 |
"542753 0.362390 0.661316 21.981667 1.363001 0.191929 1.008835 \n", |
|
|
662 |
"542754 0.352508 0.439515 34.619377 1.804193 0.597548 1.034187 \n", |
|
|
663 |
"542755 0.175675 0.507869 16.231083 1.273770 0.438456 1.093221 \n", |
|
|
664 |
"542756 0.376132 0.943472 18.649513 1.010000 0.005028 0.987747 \n", |
|
|
665 |
"542757 0.312971 0.726358 52.471287 1.873861 0.122482 1.082649 \n", |
|
|
666 |
"\n", |
|
|
667 |
" P_weighted KGWAS_P \n", |
|
|
668 |
"0 0.234167 0.346428 \n", |
|
|
669 |
"1 0.382894 0.566456 \n", |
|
|
670 |
"2 0.995281 1 \n", |
|
|
671 |
"3 0.225107 0.333025 \n", |
|
|
672 |
"4 0.041646 0.061612 \n", |
|
|
673 |
"... ... ... \n", |
|
|
674 |
"542753 0.233609 0.345602 \n", |
|
|
675 |
"542754 0.439515 0.650221 \n", |
|
|
676 |
"542755 0.449038 0.66431 \n", |
|
|
677 |
"542756 0.943472 1 \n", |
|
|
678 |
"542757 0.26816 0.396718 \n", |
|
|
679 |
"\n", |
|
|
680 |
"[542758 rows x 16 columns]" |
|
|
681 |
] |
|
|
682 |
}, |
|
|
683 |
"execution_count": 5, |
|
|
684 |
"metadata": {}, |
|
|
685 |
"output_type": "execute_result" |
|
|
686 |
} |
|
|
687 |
], |
|
|
688 |
"source": [ |
|
|
689 |
"run.kgwas_res" |
|
|
690 |
] |
|
|
691 |
}, |
|
|
692 |
{ |
|
|
693 |
"cell_type": "markdown", |
|
|
694 |
"metadata": {}, |
|
|
695 |
"source": [ |
|
|
696 |
"If needed, you can load the pre-trained model via `run.load_pretrained()`." |
|
|
697 |
] |
|
|
698 |
}, |
|
|
699 |
{ |
|
|
700 |
"cell_type": "code", |
|
|
701 |
"execution_count": null, |
|
|
702 |
"metadata": {}, |
|
|
703 |
"outputs": [], |
|
|
704 |
"source": [ |
|
|
705 |
"run.load_pretrained('./data/model/test')" |
|
|
706 |
] |
|
|
707 |
}, |
|
|
708 |
{ |
|
|
709 |
"cell_type": "markdown", |
|
|
710 |
"metadata": {}, |
|
|
711 |
"source": [ |
|
|
712 |
"If you want to (1) use the full mode of KGWAS (i.e. larger node embeddings) or (2) access the null/causal simulations or (3) access the 21 subsampled GWAS sumstats across various sample sizes or (4) analyze the KGWAS sumstats for subsampled data or (5) analyze the KGWAS sumstats for all UKBB ICD10 diseases, please use [this link](https://drive.google.com/file/d/14UcHzPRIbdMmnLPZCHx_4G-gz2pipeg9/view?usp=sharing). Note that this file is large (around 45GB) and may take a while to download. After unzipping it, you can use that directory as the data directory for the KGWAS API." |
|
|
713 |
] |
|
|
714 |
}, |
|
|
715 |
{ |
|
|
716 |
"cell_type": "code", |
|
|
717 |
"execution_count": 2, |
|
|
718 |
"metadata": {}, |
|
|
719 |
"outputs": [ |
|
|
720 |
{ |
|
|
721 |
"name": "stdout", |
|
|
722 |
"output_type": "stream", |
|
|
723 |
"text": [ |
|
|
724 |
"All required data files are present.\n" |
|
|
725 |
] |
|
|
726 |
} |
|
|
727 |
], |
|
|
728 |
"source": [ |
|
|
729 |
"from kgwas import KGWAS, KGWAS_Data\n", |
|
|
730 |
"data = KGWAS_Data(data_path = '/dfs/project/datasets/20220524-ukbiobank/data/kgwas_data/')" |
|
|
731 |
] |
|
|
732 |
}, |
|
|
733 |
{ |
|
|
734 |
"cell_type": "markdown", |
|
|
735 |
"metadata": {}, |
|
|
736 |
"source": [ |
|
|
737 |
"Now that you can use various variant, gene, and program embeddings. For example, for the result in the paper, we use the baselineLD for variant and PoPS for gene." |
|
|
738 |
] |
|
|
739 |
}, |
|
|
740 |
{ |
|
|
741 |
"cell_type": "code", |
|
|
742 |
"execution_count": 3, |
|
|
743 |
"metadata": {}, |
|
|
744 |
"outputs": [ |
|
|
745 |
{ |
|
|
746 |
"name": "stdout", |
|
|
747 |
"output_type": "stream", |
|
|
748 |
"text": [ |
|
|
749 |
"--loading KG---\n", |
|
|
750 |
"--using baselineLD SNP embedding--\n", |
|
|
751 |
"--using random go embedding--\n", |
|
|
752 |
"--using PoPs expression+PPI+pathways gene embedding--\n" |
|
|
753 |
] |
|
|
754 |
} |
|
|
755 |
], |
|
|
756 |
"source": [ |
|
|
757 |
"data.load_kg(snp_init_emb = 'baselineLD', \n", |
|
|
758 |
" go_init_emb = 'random',\n", |
|
|
759 |
" gene_init_emb = 'pops')" |
|
|
760 |
] |
|
|
761 |
}, |
|
|
762 |
{ |
|
|
763 |
"cell_type": "markdown", |
|
|
764 |
"metadata": {}, |
|
|
765 |
"source": [ |
|
|
766 |
"There are many alternative embeddings as well. \n", |
|
|
767 |
"- For variant: `enformer` (default), `baselineLD`, `SLDSC`, `cadd`, `kg`, `random`\n", |
|
|
768 |
"- For gene: `esm` (default), `pops_expression`, `pops`, `kg`, `random`\n", |
|
|
769 |
"- For program/go: `random` (default), `biogpt`, `kg`\n", |
|
|
770 |
"\n", |
|
|
771 |
"In additional to more embeddings, the full data folder contains summary statistics used in each analysis in the paper. For example, for the simulations, you can load it via:" |
|
|
772 |
] |
|
|
773 |
}, |
|
|
774 |
{ |
|
|
775 |
"cell_type": "code", |
|
|
776 |
"execution_count": null, |
|
|
777 |
"metadata": {}, |
|
|
778 |
"outputs": [ |
|
|
779 |
{ |
|
|
780 |
"name": "stdout", |
|
|
781 |
"output_type": "stream", |
|
|
782 |
"text": [ |
|
|
783 |
"All required data files are present.\n", |
|
|
784 |
"Using simulation data....\n" |
|
|
785 |
] |
|
|
786 |
}, |
|
|
787 |
{ |
|
|
788 |
"data": { |
|
|
789 |
"text/html": [ |
|
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790 |
"<div>\n", |
|
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791 |
"<style scoped>\n", |
|
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792 |
" .dataframe tbody tr th:only-of-type {\n", |
|
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793 |
" vertical-align: middle;\n", |
|
|
794 |
" }\n", |
|
|
795 |
"\n", |
|
|
796 |
" .dataframe tbody tr th {\n", |
|
|
797 |
" vertical-align: top;\n", |
|
|
798 |
" }\n", |
|
|
799 |
"\n", |
|
|
800 |
" .dataframe thead th {\n", |
|
|
801 |
" text-align: right;\n", |
|
|
802 |
" }\n", |
|
|
803 |
"</style>\n", |
|
|
804 |
"<table border=\"1\" class=\"dataframe\">\n", |
|
|
805 |
" <thead>\n", |
|
|
806 |
" <tr style=\"text-align: right;\">\n", |
|
|
807 |
" <th></th>\n", |
|
|
808 |
" <th>#CHROM</th>\n", |
|
|
809 |
" <th>ID</th>\n", |
|
|
810 |
" <th>POS</th>\n", |
|
|
811 |
" <th>A1</th>\n", |
|
|
812 |
" <th>A2</th>\n", |
|
|
813 |
" <th>N</th>\n", |
|
|
814 |
" <th>AF1</th>\n", |
|
|
815 |
" <th>BETA</th>\n", |
|
|
816 |
" <th>SE</th>\n", |
|
|
817 |
" <th>P</th>\n", |
|
|
818 |
" </tr>\n", |
|
|
819 |
" </thead>\n", |
|
|
820 |
" <tbody>\n", |
|
|
821 |
" <tr>\n", |
|
|
822 |
" <th>0</th>\n", |
|
|
823 |
" <td>1</td>\n", |
|
|
824 |
" <td>rs3131962</td>\n", |
|
|
825 |
" <td>756604</td>\n", |
|
|
826 |
" <td>A</td>\n", |
|
|
827 |
" <td>G</td>\n", |
|
|
828 |
" <td>4993</td>\n", |
|
|
829 |
" <td>0.129882</td>\n", |
|
|
830 |
" <td>14.559400</td>\n", |
|
|
831 |
" <td>17.1871</td>\n", |
|
|
832 |
" <td>0.396933</td>\n", |
|
|
833 |
" </tr>\n", |
|
|
834 |
" <tr>\n", |
|
|
835 |
" <th>1</th>\n", |
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836 |
" <td>1</td>\n", |
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837 |
" <td>rs12562034</td>\n", |
|
|
838 |
" <td>768448</td>\n", |
|
|
839 |
" <td>A</td>\n", |
|
|
840 |
" <td>G</td>\n", |
|
|
841 |
" <td>4994</td>\n", |
|
|
842 |
" <td>0.103124</td>\n", |
|
|
843 |
" <td>-15.034400</td>\n", |
|
|
844 |
" <td>19.0234</td>\n", |
|
|
845 |
" <td>0.429345</td>\n", |
|
|
846 |
" </tr>\n", |
|
|
847 |
" <tr>\n", |
|
|
848 |
" <th>2</th>\n", |
|
|
849 |
" <td>1</td>\n", |
|
|
850 |
" <td>rs4040617</td>\n", |
|
|
851 |
" <td>779322</td>\n", |
|
|
852 |
" <td>G</td>\n", |
|
|
853 |
" <td>A</td>\n", |
|
|
854 |
" <td>4979</td>\n", |
|
|
855 |
" <td>0.127435</td>\n", |
|
|
856 |
" <td>15.537200</td>\n", |
|
|
857 |
" <td>17.3933</td>\n", |
|
|
858 |
" <td>0.371704</td>\n", |
|
|
859 |
" </tr>\n", |
|
|
860 |
" <tr>\n", |
|
|
861 |
" <th>3</th>\n", |
|
|
862 |
" <td>1</td>\n", |
|
|
863 |
" <td>rs79373928</td>\n", |
|
|
864 |
" <td>801536</td>\n", |
|
|
865 |
" <td>G</td>\n", |
|
|
866 |
" <td>T</td>\n", |
|
|
867 |
" <td>4996</td>\n", |
|
|
868 |
" <td>0.015012</td>\n", |
|
|
869 |
" <td>16.142600</td>\n", |
|
|
870 |
" <td>47.7752</td>\n", |
|
|
871 |
" <td>0.735448</td>\n", |
|
|
872 |
" </tr>\n", |
|
|
873 |
" <tr>\n", |
|
|
874 |
" <th>4</th>\n", |
|
|
875 |
" <td>1</td>\n", |
|
|
876 |
" <td>rs11240779</td>\n", |
|
|
877 |
" <td>808631</td>\n", |
|
|
878 |
" <td>G</td>\n", |
|
|
879 |
" <td>A</td>\n", |
|
|
880 |
" <td>4961</td>\n", |
|
|
881 |
" <td>0.222233</td>\n", |
|
|
882 |
" <td>0.859838</td>\n", |
|
|
883 |
" <td>13.9158</td>\n", |
|
|
884 |
" <td>0.950731</td>\n", |
|
|
885 |
" </tr>\n", |
|
|
886 |
" <tr>\n", |
|
|
887 |
" <th>...</th>\n", |
|
|
888 |
" <td>...</td>\n", |
|
|
889 |
" <td>...</td>\n", |
|
|
890 |
" <td>...</td>\n", |
|
|
891 |
" <td>...</td>\n", |
|
|
892 |
" <td>...</td>\n", |
|
|
893 |
" <td>...</td>\n", |
|
|
894 |
" <td>...</td>\n", |
|
|
895 |
" <td>...</td>\n", |
|
|
896 |
" <td>...</td>\n", |
|
|
897 |
" <td>...</td>\n", |
|
|
898 |
" </tr>\n", |
|
|
899 |
" <tr>\n", |
|
|
900 |
" <th>542753</th>\n", |
|
|
901 |
" <td>22</td>\n", |
|
|
902 |
" <td>rs73174435</td>\n", |
|
|
903 |
" <td>51174939</td>\n", |
|
|
904 |
" <td>T</td>\n", |
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|
905 |
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|
|
906 |
" <td>4991</td>\n", |
|
|
907 |
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|
|
908 |
" <td>53.082400</td>\n", |
|
|
909 |
" <td>24.8130</td>\n", |
|
|
910 |
" <td>0.032412</td>\n", |
|
|
911 |
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|
|
912 |
" <tr>\n", |
|
|
913 |
" <th>542754</th>\n", |
|
|
914 |
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|
915 |
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|
|
916 |
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|
|
917 |
" <td>G</td>\n", |
|
|
918 |
" <td>A</td>\n", |
|
|
919 |
" <td>4959</td>\n", |
|
|
920 |
" <td>0.066243</td>\n", |
|
|
921 |
" <td>17.689800</td>\n", |
|
|
922 |
" <td>23.2562</td>\n", |
|
|
923 |
" <td>0.446867</td>\n", |
|
|
924 |
" </tr>\n", |
|
|
925 |
" <tr>\n", |
|
|
926 |
" <th>542755</th>\n", |
|
|
927 |
" <td>22</td>\n", |
|
|
928 |
" <td>rs5771002</td>\n", |
|
|
929 |
" <td>51183255</td>\n", |
|
|
930 |
" <td>A</td>\n", |
|
|
931 |
" <td>G</td>\n", |
|
|
932 |
" <td>4937</td>\n", |
|
|
933 |
" <td>0.334414</td>\n", |
|
|
934 |
" <td>-12.170400</td>\n", |
|
|
935 |
" <td>12.3314</td>\n", |
|
|
936 |
" <td>0.323670</td>\n", |
|
|
937 |
" </tr>\n", |
|
|
938 |
" <tr>\n", |
|
|
939 |
" <th>542756</th>\n", |
|
|
940 |
" <td>22</td>\n", |
|
|
941 |
" <td>rs3865764</td>\n", |
|
|
942 |
" <td>51185848</td>\n", |
|
|
943 |
" <td>G</td>\n", |
|
|
944 |
" <td>A</td>\n", |
|
|
945 |
" <td>4984</td>\n", |
|
|
946 |
" <td>0.050662</td>\n", |
|
|
947 |
" <td>-43.871900</td>\n", |
|
|
948 |
" <td>26.3007</td>\n", |
|
|
949 |
" <td>0.095299</td>\n", |
|
|
950 |
" </tr>\n", |
|
|
951 |
" <tr>\n", |
|
|
952 |
" <th>542757</th>\n", |
|
|
953 |
" <td>22</td>\n", |
|
|
954 |
" <td>rs142680588</td>\n", |
|
|
955 |
" <td>51193629</td>\n", |
|
|
956 |
" <td>G</td>\n", |
|
|
957 |
" <td>A</td>\n", |
|
|
958 |
" <td>4994</td>\n", |
|
|
959 |
" <td>0.073388</td>\n", |
|
|
960 |
" <td>11.338700</td>\n", |
|
|
961 |
" <td>22.2066</td>\n", |
|
|
962 |
" <td>0.609630</td>\n", |
|
|
963 |
" </tr>\n", |
|
|
964 |
" </tbody>\n", |
|
|
965 |
"</table>\n", |
|
|
966 |
"<p>542758 rows × 10 columns</p>\n", |
|
|
967 |
"</div>" |
|
|
968 |
], |
|
|
969 |
"text/plain": [ |
|
|
970 |
" #CHROM ID POS A1 A2 N AF1 BETA \\\n", |
|
|
971 |
"0 1 rs3131962 756604 A G 4993 0.129882 14.559400 \n", |
|
|
972 |
"1 1 rs12562034 768448 A G 4994 0.103124 -15.034400 \n", |
|
|
973 |
"2 1 rs4040617 779322 G A 4979 0.127435 15.537200 \n", |
|
|
974 |
"3 1 rs79373928 801536 G T 4996 0.015012 16.142600 \n", |
|
|
975 |
"4 1 rs11240779 808631 G A 4961 0.222233 0.859838 \n", |
|
|
976 |
"... ... ... ... .. .. ... ... ... \n", |
|
|
977 |
"542753 22 rs73174435 51174939 T C 4991 0.057103 53.082400 \n", |
|
|
978 |
"542754 22 rs3810648 51175626 G A 4959 0.066243 17.689800 \n", |
|
|
979 |
"542755 22 rs5771002 51183255 A G 4937 0.334414 -12.170400 \n", |
|
|
980 |
"542756 22 rs3865764 51185848 G A 4984 0.050662 -43.871900 \n", |
|
|
981 |
"542757 22 rs142680588 51193629 G A 4994 0.073388 11.338700 \n", |
|
|
982 |
"\n", |
|
|
983 |
" SE P \n", |
|
|
984 |
"0 17.1871 0.396933 \n", |
|
|
985 |
"1 19.0234 0.429345 \n", |
|
|
986 |
"2 17.3933 0.371704 \n", |
|
|
987 |
"3 47.7752 0.735448 \n", |
|
|
988 |
"4 13.9158 0.950731 \n", |
|
|
989 |
"... ... ... \n", |
|
|
990 |
"542753 24.8130 0.032412 \n", |
|
|
991 |
"542754 23.2562 0.446867 \n", |
|
|
992 |
"542755 12.3314 0.323670 \n", |
|
|
993 |
"542756 26.3007 0.095299 \n", |
|
|
994 |
"542757 22.2066 0.609630 \n", |
|
|
995 |
"\n", |
|
|
996 |
"[542758 rows x 10 columns]" |
|
|
997 |
] |
|
|
998 |
}, |
|
|
999 |
"execution_count": 1, |
|
|
1000 |
"metadata": {}, |
|
|
1001 |
"output_type": "execute_result" |
|
|
1002 |
} |
|
|
1003 |
], |
|
|
1004 |
"source": [ |
|
|
1005 |
"data.load_simulation_gwas('causal', seed = 1) # seed can range from 1-500\n", |
|
|
1006 |
"data.lr_uni" |
|
|
1007 |
] |
|
|
1008 |
}, |
|
|
1009 |
{ |
|
|
1010 |
"cell_type": "markdown", |
|
|
1011 |
"metadata": {}, |
|
|
1012 |
"source": [ |
|
|
1013 |
"Similarly for null simulations, you can load it via:" |
|
|
1014 |
] |
|
|
1015 |
}, |
|
|
1016 |
{ |
|
|
1017 |
"cell_type": "code", |
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|
1018 |
"execution_count": 2, |
|
|
1019 |
"metadata": {}, |
|
|
1020 |
"outputs": [ |
|
|
1021 |
{ |
|
|
1022 |
"name": "stdout", |
|
|
1023 |
"output_type": "stream", |
|
|
1024 |
"text": [ |
|
|
1025 |
"Using simulation data....\n" |
|
|
1026 |
] |
|
|
1027 |
}, |
|
|
1028 |
{ |
|
|
1029 |
"data": { |
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1030 |
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1031 |
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1032 |
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1035 |
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1038 |
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1041 |
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1042 |
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1044 |
"</style>\n", |
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1045 |
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1046 |
" <thead>\n", |
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|
1047 |
" <tr style=\"text-align: right;\">\n", |
|
|
1048 |
" <th></th>\n", |
|
|
1049 |
" <th>#CHROM</th>\n", |
|
|
1050 |
" <th>ID</th>\n", |
|
|
1051 |
" <th>POS</th>\n", |
|
|
1052 |
" <th>A1</th>\n", |
|
|
1053 |
" <th>A2</th>\n", |
|
|
1054 |
" <th>N</th>\n", |
|
|
1055 |
" <th>AF1</th>\n", |
|
|
1056 |
" <th>BETA</th>\n", |
|
|
1057 |
" <th>SE</th>\n", |
|
|
1058 |
" <th>P</th>\n", |
|
|
1059 |
" </tr>\n", |
|
|
1060 |
" </thead>\n", |
|
|
1061 |
" <tbody>\n", |
|
|
1062 |
" <tr>\n", |
|
|
1063 |
" <th>0</th>\n", |
|
|
1064 |
" <td>1</td>\n", |
|
|
1065 |
" <td>rs3131962</td>\n", |
|
|
1066 |
" <td>756604</td>\n", |
|
|
1067 |
" <td>A</td>\n", |
|
|
1068 |
" <td>G</td>\n", |
|
|
1069 |
" <td>4993</td>\n", |
|
|
1070 |
" <td>0.129882</td>\n", |
|
|
1071 |
" <td>-2.960260</td>\n", |
|
|
1072 |
" <td>7.66276</td>\n", |
|
|
1073 |
" <td>0.699261</td>\n", |
|
|
1074 |
" </tr>\n", |
|
|
1075 |
" <tr>\n", |
|
|
1076 |
" <th>1</th>\n", |
|
|
1077 |
" <td>1</td>\n", |
|
|
1078 |
" <td>rs12562034</td>\n", |
|
|
1079 |
" <td>768448</td>\n", |
|
|
1080 |
" <td>A</td>\n", |
|
|
1081 |
" <td>G</td>\n", |
|
|
1082 |
" <td>4994</td>\n", |
|
|
1083 |
" <td>0.103124</td>\n", |
|
|
1084 |
" <td>-19.335700</td>\n", |
|
|
1085 |
" <td>8.47710</td>\n", |
|
|
1086 |
" <td>0.022552</td>\n", |
|
|
1087 |
" </tr>\n", |
|
|
1088 |
" <tr>\n", |
|
|
1089 |
" <th>2</th>\n", |
|
|
1090 |
" <td>1</td>\n", |
|
|
1091 |
" <td>rs4040617</td>\n", |
|
|
1092 |
" <td>779322</td>\n", |
|
|
1093 |
" <td>G</td>\n", |
|
|
1094 |
" <td>A</td>\n", |
|
|
1095 |
" <td>4979</td>\n", |
|
|
1096 |
" <td>0.127435</td>\n", |
|
|
1097 |
" <td>-3.287600</td>\n", |
|
|
1098 |
" <td>7.75475</td>\n", |
|
|
1099 |
" <td>0.671605</td>\n", |
|
|
1100 |
" </tr>\n", |
|
|
1101 |
" <tr>\n", |
|
|
1102 |
" <th>3</th>\n", |
|
|
1103 |
" <td>1</td>\n", |
|
|
1104 |
" <td>rs79373928</td>\n", |
|
|
1105 |
" <td>801536</td>\n", |
|
|
1106 |
" <td>G</td>\n", |
|
|
1107 |
" <td>T</td>\n", |
|
|
1108 |
" <td>4996</td>\n", |
|
|
1109 |
" <td>0.015012</td>\n", |
|
|
1110 |
" <td>-12.530000</td>\n", |
|
|
1111 |
" <td>21.29860</td>\n", |
|
|
1112 |
" <td>0.556329</td>\n", |
|
|
1113 |
" </tr>\n", |
|
|
1114 |
" <tr>\n", |
|
|
1115 |
" <th>4</th>\n", |
|
|
1116 |
" <td>1</td>\n", |
|
|
1117 |
" <td>rs11240779</td>\n", |
|
|
1118 |
" <td>808631</td>\n", |
|
|
1119 |
" <td>G</td>\n", |
|
|
1120 |
" <td>A</td>\n", |
|
|
1121 |
" <td>4961</td>\n", |
|
|
1122 |
" <td>0.222233</td>\n", |
|
|
1123 |
" <td>-8.564830</td>\n", |
|
|
1124 |
" <td>6.20273</td>\n", |
|
|
1125 |
" <td>0.167335</td>\n", |
|
|
1126 |
" </tr>\n", |
|
|
1127 |
" <tr>\n", |
|
|
1128 |
" <th>...</th>\n", |
|
|
1129 |
" <td>...</td>\n", |
|
|
1130 |
" <td>...</td>\n", |
|
|
1131 |
" <td>...</td>\n", |
|
|
1132 |
" <td>...</td>\n", |
|
|
1133 |
" <td>...</td>\n", |
|
|
1134 |
" <td>...</td>\n", |
|
|
1135 |
" <td>...</td>\n", |
|
|
1136 |
" <td>...</td>\n", |
|
|
1137 |
" <td>...</td>\n", |
|
|
1138 |
" <td>...</td>\n", |
|
|
1139 |
" </tr>\n", |
|
|
1140 |
" <tr>\n", |
|
|
1141 |
" <th>542753</th>\n", |
|
|
1142 |
" <td>22</td>\n", |
|
|
1143 |
" <td>rs73174435</td>\n", |
|
|
1144 |
" <td>51174939</td>\n", |
|
|
1145 |
" <td>T</td>\n", |
|
|
1146 |
" <td>C</td>\n", |
|
|
1147 |
" <td>4991</td>\n", |
|
|
1148 |
" <td>0.057103</td>\n", |
|
|
1149 |
" <td>-24.859400</td>\n", |
|
|
1150 |
" <td>11.06160</td>\n", |
|
|
1151 |
" <td>0.024617</td>\n", |
|
|
1152 |
" </tr>\n", |
|
|
1153 |
" <tr>\n", |
|
|
1154 |
" <th>542754</th>\n", |
|
|
1155 |
" <td>22</td>\n", |
|
|
1156 |
" <td>rs3810648</td>\n", |
|
|
1157 |
" <td>51175626</td>\n", |
|
|
1158 |
" <td>G</td>\n", |
|
|
1159 |
" <td>A</td>\n", |
|
|
1160 |
" <td>4959</td>\n", |
|
|
1161 |
" <td>0.066243</td>\n", |
|
|
1162 |
" <td>-0.725793</td>\n", |
|
|
1163 |
" <td>10.36870</td>\n", |
|
|
1164 |
" <td>0.944195</td>\n", |
|
|
1165 |
" </tr>\n", |
|
|
1166 |
" <tr>\n", |
|
|
1167 |
" <th>542755</th>\n", |
|
|
1168 |
" <td>22</td>\n", |
|
|
1169 |
" <td>rs5771002</td>\n", |
|
|
1170 |
" <td>51183255</td>\n", |
|
|
1171 |
" <td>A</td>\n", |
|
|
1172 |
" <td>G</td>\n", |
|
|
1173 |
" <td>4937</td>\n", |
|
|
1174 |
" <td>0.334414</td>\n", |
|
|
1175 |
" <td>-5.555300</td>\n", |
|
|
1176 |
" <td>5.49753</td>\n", |
|
|
1177 |
" <td>0.312251</td>\n", |
|
|
1178 |
" </tr>\n", |
|
|
1179 |
" <tr>\n", |
|
|
1180 |
" <th>542756</th>\n", |
|
|
1181 |
" <td>22</td>\n", |
|
|
1182 |
" <td>rs3865764</td>\n", |
|
|
1183 |
" <td>51185848</td>\n", |
|
|
1184 |
" <td>G</td>\n", |
|
|
1185 |
" <td>A</td>\n", |
|
|
1186 |
" <td>4984</td>\n", |
|
|
1187 |
" <td>0.050662</td>\n", |
|
|
1188 |
" <td>12.588200</td>\n", |
|
|
1189 |
" <td>11.72730</td>\n", |
|
|
1190 |
" <td>0.283085</td>\n", |
|
|
1191 |
" </tr>\n", |
|
|
1192 |
" <tr>\n", |
|
|
1193 |
" <th>542757</th>\n", |
|
|
1194 |
" <td>22</td>\n", |
|
|
1195 |
" <td>rs142680588</td>\n", |
|
|
1196 |
" <td>51193629</td>\n", |
|
|
1197 |
" <td>G</td>\n", |
|
|
1198 |
" <td>A</td>\n", |
|
|
1199 |
" <td>4994</td>\n", |
|
|
1200 |
" <td>0.073388</td>\n", |
|
|
1201 |
" <td>-13.533700</td>\n", |
|
|
1202 |
" <td>9.89851</td>\n", |
|
|
1203 |
" <td>0.171548</td>\n", |
|
|
1204 |
" </tr>\n", |
|
|
1205 |
" </tbody>\n", |
|
|
1206 |
"</table>\n", |
|
|
1207 |
"<p>542758 rows × 10 columns</p>\n", |
|
|
1208 |
"</div>" |
|
|
1209 |
], |
|
|
1210 |
"text/plain": [ |
|
|
1211 |
" #CHROM ID POS A1 A2 N AF1 BETA \\\n", |
|
|
1212 |
"0 1 rs3131962 756604 A G 4993 0.129882 -2.960260 \n", |
|
|
1213 |
"1 1 rs12562034 768448 A G 4994 0.103124 -19.335700 \n", |
|
|
1214 |
"2 1 rs4040617 779322 G A 4979 0.127435 -3.287600 \n", |
|
|
1215 |
"3 1 rs79373928 801536 G T 4996 0.015012 -12.530000 \n", |
|
|
1216 |
"4 1 rs11240779 808631 G A 4961 0.222233 -8.564830 \n", |
|
|
1217 |
"... ... ... ... .. .. ... ... ... \n", |
|
|
1218 |
"542753 22 rs73174435 51174939 T C 4991 0.057103 -24.859400 \n", |
|
|
1219 |
"542754 22 rs3810648 51175626 G A 4959 0.066243 -0.725793 \n", |
|
|
1220 |
"542755 22 rs5771002 51183255 A G 4937 0.334414 -5.555300 \n", |
|
|
1221 |
"542756 22 rs3865764 51185848 G A 4984 0.050662 12.588200 \n", |
|
|
1222 |
"542757 22 rs142680588 51193629 G A 4994 0.073388 -13.533700 \n", |
|
|
1223 |
"\n", |
|
|
1224 |
" SE P \n", |
|
|
1225 |
"0 7.66276 0.699261 \n", |
|
|
1226 |
"1 8.47710 0.022552 \n", |
|
|
1227 |
"2 7.75475 0.671605 \n", |
|
|
1228 |
"3 21.29860 0.556329 \n", |
|
|
1229 |
"4 6.20273 0.167335 \n", |
|
|
1230 |
"... ... ... \n", |
|
|
1231 |
"542753 11.06160 0.024617 \n", |
|
|
1232 |
"542754 10.36870 0.944195 \n", |
|
|
1233 |
"542755 5.49753 0.312251 \n", |
|
|
1234 |
"542756 11.72730 0.283085 \n", |
|
|
1235 |
"542757 9.89851 0.171548 \n", |
|
|
1236 |
"\n", |
|
|
1237 |
"[542758 rows x 10 columns]" |
|
|
1238 |
] |
|
|
1239 |
}, |
|
|
1240 |
"execution_count": 2, |
|
|
1241 |
"metadata": {}, |
|
|
1242 |
"output_type": "execute_result" |
|
|
1243 |
} |
|
|
1244 |
], |
|
|
1245 |
"source": [ |
|
|
1246 |
"data.load_simulation_gwas('null', seed = 1)# seed can range from 1-500\n", |
|
|
1247 |
"data.lr_uni" |
|
|
1248 |
] |
|
|
1249 |
}, |
|
|
1250 |
{ |
|
|
1251 |
"cell_type": "markdown", |
|
|
1252 |
"metadata": {}, |
|
|
1253 |
"source": [ |
|
|
1254 |
"Now, for the subsampling analysis, you can load any trait out of the 21 subsampled traits in various sample sizes across 5 replicates. The phenotype list can be accessed via:" |
|
|
1255 |
] |
|
|
1256 |
}, |
|
|
1257 |
{ |
|
|
1258 |
"cell_type": "code", |
|
|
1259 |
"execution_count": 3, |
|
|
1260 |
"metadata": {}, |
|
|
1261 |
"outputs": [ |
|
|
1262 |
{ |
|
|
1263 |
"data": { |
|
|
1264 |
"text/plain": [ |
|
|
1265 |
"['body_BALDING1',\n", |
|
|
1266 |
" 'disease_ALLERGY_ECZEMA_DIAGNOSED',\n", |
|
|
1267 |
" 'disease_HYPOTHYROIDISM_SELF_REP',\n", |
|
|
1268 |
" 'pigment_SUNBURN',\n", |
|
|
1269 |
" '21001',\n", |
|
|
1270 |
" '50',\n", |
|
|
1271 |
" '30080',\n", |
|
|
1272 |
" '30070',\n", |
|
|
1273 |
" '30010',\n", |
|
|
1274 |
" '30000',\n", |
|
|
1275 |
" 'biochemistry_AlkalinePhosphatase',\n", |
|
|
1276 |
" 'biochemistry_AspartateAminotransferase',\n", |
|
|
1277 |
" 'biochemistry_Cholesterol',\n", |
|
|
1278 |
" 'biochemistry_Creatinine',\n", |
|
|
1279 |
" 'biochemistry_IGF1',\n", |
|
|
1280 |
" 'biochemistry_Phosphate',\n", |
|
|
1281 |
" 'biochemistry_Testosterone_Male',\n", |
|
|
1282 |
" 'biochemistry_TotalBilirubin',\n", |
|
|
1283 |
" 'biochemistry_TotalProtein',\n", |
|
|
1284 |
" 'biochemistry_VitaminD',\n", |
|
|
1285 |
" 'bmd_HEEL_TSCOREz']" |
|
|
1286 |
] |
|
|
1287 |
}, |
|
|
1288 |
"execution_count": 3, |
|
|
1289 |
"metadata": {}, |
|
|
1290 |
"output_type": "execute_result" |
|
|
1291 |
} |
|
|
1292 |
], |
|
|
1293 |
"source": [ |
|
|
1294 |
"data.get_pheno_list()['21_indep_traits']" |
|
|
1295 |
] |
|
|
1296 |
}, |
|
|
1297 |
{ |
|
|
1298 |
"cell_type": "markdown", |
|
|
1299 |
"metadata": {}, |
|
|
1300 |
"source": [ |
|
|
1301 |
"Usually each trait has the following sample sizes available: 1000, 2500, 5000, 7500, 10000, 50000, 100000, 200000. For example, to load body_BALDING1 at sample size 1000 at replicate 1, you can use:" |
|
|
1302 |
] |
|
|
1303 |
}, |
|
|
1304 |
{ |
|
|
1305 |
"cell_type": "code", |
|
|
1306 |
"execution_count": 4, |
|
|
1307 |
"metadata": {}, |
|
|
1308 |
"outputs": [ |
|
|
1309 |
{ |
|
|
1310 |
"data": { |
|
|
1311 |
"text/html": [ |
|
|
1312 |
"<div>\n", |
|
|
1313 |
"<style scoped>\n", |
|
|
1314 |
" .dataframe tbody tr th:only-of-type {\n", |
|
|
1315 |
" vertical-align: middle;\n", |
|
|
1316 |
" }\n", |
|
|
1317 |
"\n", |
|
|
1318 |
" .dataframe tbody tr th {\n", |
|
|
1319 |
" vertical-align: top;\n", |
|
|
1320 |
" }\n", |
|
|
1321 |
"\n", |
|
|
1322 |
" .dataframe thead th {\n", |
|
|
1323 |
" text-align: right;\n", |
|
|
1324 |
" }\n", |
|
|
1325 |
"</style>\n", |
|
|
1326 |
"<table border=\"1\" class=\"dataframe\">\n", |
|
|
1327 |
" <thead>\n", |
|
|
1328 |
" <tr style=\"text-align: right;\">\n", |
|
|
1329 |
" <th></th>\n", |
|
|
1330 |
" <th>#CHROM</th>\n", |
|
|
1331 |
" <th>POS</th>\n", |
|
|
1332 |
" <th>ID</th>\n", |
|
|
1333 |
" <th>REF</th>\n", |
|
|
1334 |
" <th>ALT</th>\n", |
|
|
1335 |
" <th>A1</th>\n", |
|
|
1336 |
" <th>FIRTH?</th>\n", |
|
|
1337 |
" <th>TEST</th>\n", |
|
|
1338 |
" <th>OBS_CT</th>\n", |
|
|
1339 |
" <th>OR</th>\n", |
|
|
1340 |
" <th>LOG(OR)_SE</th>\n", |
|
|
1341 |
" <th>Z_STAT</th>\n", |
|
|
1342 |
" <th>P</th>\n", |
|
|
1343 |
" <th>ERRCODE</th>\n", |
|
|
1344 |
" <th>SNP</th>\n", |
|
|
1345 |
" <th>A2</th>\n", |
|
|
1346 |
" <th>N</th>\n", |
|
|
1347 |
" </tr>\n", |
|
|
1348 |
" </thead>\n", |
|
|
1349 |
" <tbody>\n", |
|
|
1350 |
" <tr>\n", |
|
|
1351 |
" <th>0</th>\n", |
|
|
1352 |
" <td>1</td>\n", |
|
|
1353 |
" <td>756604</td>\n", |
|
|
1354 |
" <td>rs3131962</td>\n", |
|
|
1355 |
" <td>G</td>\n", |
|
|
1356 |
" <td>A</td>\n", |
|
|
1357 |
" <td>A</td>\n", |
|
|
1358 |
" <td>Y</td>\n", |
|
|
1359 |
" <td>ADD</td>\n", |
|
|
1360 |
" <td>999</td>\n", |
|
|
1361 |
" <td>1.241130</td>\n", |
|
|
1362 |
" <td>0.209870</td>\n", |
|
|
1363 |
" <td>1.029320</td>\n", |
|
|
1364 |
" <td>0.303330</td>\n", |
|
|
1365 |
" <td>.</td>\n", |
|
|
1366 |
" <td>rs3131962</td>\n", |
|
|
1367 |
" <td>G</td>\n", |
|
|
1368 |
" <td>999</td>\n", |
|
|
1369 |
" </tr>\n", |
|
|
1370 |
" <tr>\n", |
|
|
1371 |
" <th>1</th>\n", |
|
|
1372 |
" <td>1</td>\n", |
|
|
1373 |
" <td>768448</td>\n", |
|
|
1374 |
" <td>rs12562034</td>\n", |
|
|
1375 |
" <td>G</td>\n", |
|
|
1376 |
" <td>A</td>\n", |
|
|
1377 |
" <td>A</td>\n", |
|
|
1378 |
" <td>Y</td>\n", |
|
|
1379 |
" <td>ADD</td>\n", |
|
|
1380 |
" <td>996</td>\n", |
|
|
1381 |
" <td>0.433894</td>\n", |
|
|
1382 |
" <td>0.285912</td>\n", |
|
|
1383 |
" <td>-2.920330</td>\n", |
|
|
1384 |
" <td>0.003497</td>\n", |
|
|
1385 |
" <td>.</td>\n", |
|
|
1386 |
" <td>rs12562034</td>\n", |
|
|
1387 |
" <td>G</td>\n", |
|
|
1388 |
" <td>996</td>\n", |
|
|
1389 |
" </tr>\n", |
|
|
1390 |
" <tr>\n", |
|
|
1391 |
" <th>2</th>\n", |
|
|
1392 |
" <td>1</td>\n", |
|
|
1393 |
" <td>779322</td>\n", |
|
|
1394 |
" <td>rs4040617</td>\n", |
|
|
1395 |
" <td>A</td>\n", |
|
|
1396 |
" <td>G</td>\n", |
|
|
1397 |
" <td>G</td>\n", |
|
|
1398 |
" <td>Y</td>\n", |
|
|
1399 |
" <td>ADD</td>\n", |
|
|
1400 |
" <td>996</td>\n", |
|
|
1401 |
" <td>1.178310</td>\n", |
|
|
1402 |
" <td>0.211892</td>\n", |
|
|
1403 |
" <td>0.774379</td>\n", |
|
|
1404 |
" <td>0.438707</td>\n", |
|
|
1405 |
" <td>.</td>\n", |
|
|
1406 |
" <td>rs4040617</td>\n", |
|
|
1407 |
" <td>A</td>\n", |
|
|
1408 |
" <td>996</td>\n", |
|
|
1409 |
" </tr>\n", |
|
|
1410 |
" <tr>\n", |
|
|
1411 |
" <th>3</th>\n", |
|
|
1412 |
" <td>1</td>\n", |
|
|
1413 |
" <td>801536</td>\n", |
|
|
1414 |
" <td>rs79373928</td>\n", |
|
|
1415 |
" <td>T</td>\n", |
|
|
1416 |
" <td>G</td>\n", |
|
|
1417 |
" <td>G</td>\n", |
|
|
1418 |
" <td>Y</td>\n", |
|
|
1419 |
" <td>ADD</td>\n", |
|
|
1420 |
" <td>998</td>\n", |
|
|
1421 |
" <td>0.989852</td>\n", |
|
|
1422 |
" <td>0.479159</td>\n", |
|
|
1423 |
" <td>-0.021286</td>\n", |
|
|
1424 |
" <td>0.983018</td>\n", |
|
|
1425 |
" <td>.</td>\n", |
|
|
1426 |
" <td>rs79373928</td>\n", |
|
|
1427 |
" <td>T</td>\n", |
|
|
1428 |
" <td>998</td>\n", |
|
|
1429 |
" </tr>\n", |
|
|
1430 |
" <tr>\n", |
|
|
1431 |
" <th>4</th>\n", |
|
|
1432 |
" <td>1</td>\n", |
|
|
1433 |
" <td>808631</td>\n", |
|
|
1434 |
" <td>rs11240779</td>\n", |
|
|
1435 |
" <td>A</td>\n", |
|
|
1436 |
" <td>G</td>\n", |
|
|
1437 |
" <td>G</td>\n", |
|
|
1438 |
" <td>Y</td>\n", |
|
|
1439 |
" <td>ADD</td>\n", |
|
|
1440 |
" <td>994</td>\n", |
|
|
1441 |
" <td>0.880382</td>\n", |
|
|
1442 |
" <td>0.173114</td>\n", |
|
|
1443 |
" <td>-0.735930</td>\n", |
|
|
1444 |
" <td>0.461773</td>\n", |
|
|
1445 |
" <td>.</td>\n", |
|
|
1446 |
" <td>rs11240779</td>\n", |
|
|
1447 |
" <td>A</td>\n", |
|
|
1448 |
" <td>994</td>\n", |
|
|
1449 |
" </tr>\n", |
|
|
1450 |
" <tr>\n", |
|
|
1451 |
" <th>...</th>\n", |
|
|
1452 |
" <td>...</td>\n", |
|
|
1453 |
" <td>...</td>\n", |
|
|
1454 |
" <td>...</td>\n", |
|
|
1455 |
" <td>...</td>\n", |
|
|
1456 |
" <td>...</td>\n", |
|
|
1457 |
" <td>...</td>\n", |
|
|
1458 |
" <td>...</td>\n", |
|
|
1459 |
" <td>...</td>\n", |
|
|
1460 |
" <td>...</td>\n", |
|
|
1461 |
" <td>...</td>\n", |
|
|
1462 |
" <td>...</td>\n", |
|
|
1463 |
" <td>...</td>\n", |
|
|
1464 |
" <td>...</td>\n", |
|
|
1465 |
" <td>...</td>\n", |
|
|
1466 |
" <td>...</td>\n", |
|
|
1467 |
" <td>...</td>\n", |
|
|
1468 |
" <td>...</td>\n", |
|
|
1469 |
" </tr>\n", |
|
|
1470 |
" <tr>\n", |
|
|
1471 |
" <th>542753</th>\n", |
|
|
1472 |
" <td>22</td>\n", |
|
|
1473 |
" <td>51174939</td>\n", |
|
|
1474 |
" <td>rs73174435</td>\n", |
|
|
1475 |
" <td>C</td>\n", |
|
|
1476 |
" <td>T</td>\n", |
|
|
1477 |
" <td>T</td>\n", |
|
|
1478 |
" <td>Y</td>\n", |
|
|
1479 |
" <td>ADD</td>\n", |
|
|
1480 |
" <td>999</td>\n", |
|
|
1481 |
" <td>0.642727</td>\n", |
|
|
1482 |
" <td>0.362564</td>\n", |
|
|
1483 |
" <td>-1.219190</td>\n", |
|
|
1484 |
" <td>0.222772</td>\n", |
|
|
1485 |
" <td>.</td>\n", |
|
|
1486 |
" <td>rs73174435</td>\n", |
|
|
1487 |
" <td>C</td>\n", |
|
|
1488 |
" <td>999</td>\n", |
|
|
1489 |
" </tr>\n", |
|
|
1490 |
" <tr>\n", |
|
|
1491 |
" <th>542754</th>\n", |
|
|
1492 |
" <td>22</td>\n", |
|
|
1493 |
" <td>51175626</td>\n", |
|
|
1494 |
" <td>rs3810648</td>\n", |
|
|
1495 |
" <td>A</td>\n", |
|
|
1496 |
" <td>G</td>\n", |
|
|
1497 |
" <td>G</td>\n", |
|
|
1498 |
" <td>Y</td>\n", |
|
|
1499 |
" <td>ADD</td>\n", |
|
|
1500 |
" <td>996</td>\n", |
|
|
1501 |
" <td>0.752885</td>\n", |
|
|
1502 |
" <td>0.286799</td>\n", |
|
|
1503 |
" <td>-0.989690</td>\n", |
|
|
1504 |
" <td>0.322326</td>\n", |
|
|
1505 |
" <td>.</td>\n", |
|
|
1506 |
" <td>rs3810648</td>\n", |
|
|
1507 |
" <td>A</td>\n", |
|
|
1508 |
" <td>996</td>\n", |
|
|
1509 |
" </tr>\n", |
|
|
1510 |
" <tr>\n", |
|
|
1511 |
" <th>542755</th>\n", |
|
|
1512 |
" <td>22</td>\n", |
|
|
1513 |
" <td>51183255</td>\n", |
|
|
1514 |
" <td>rs5771002</td>\n", |
|
|
1515 |
" <td>G</td>\n", |
|
|
1516 |
" <td>A</td>\n", |
|
|
1517 |
" <td>A</td>\n", |
|
|
1518 |
" <td>Y</td>\n", |
|
|
1519 |
" <td>ADD</td>\n", |
|
|
1520 |
" <td>981</td>\n", |
|
|
1521 |
" <td>0.792577</td>\n", |
|
|
1522 |
" <td>0.150356</td>\n", |
|
|
1523 |
" <td>-1.546100</td>\n", |
|
|
1524 |
" <td>0.122080</td>\n", |
|
|
1525 |
" <td>.</td>\n", |
|
|
1526 |
" <td>rs5771002</td>\n", |
|
|
1527 |
" <td>G</td>\n", |
|
|
1528 |
" <td>981</td>\n", |
|
|
1529 |
" </tr>\n", |
|
|
1530 |
" <tr>\n", |
|
|
1531 |
" <th>542756</th>\n", |
|
|
1532 |
" <td>22</td>\n", |
|
|
1533 |
" <td>51185848</td>\n", |
|
|
1534 |
" <td>rs3865764</td>\n", |
|
|
1535 |
" <td>A</td>\n", |
|
|
1536 |
" <td>G</td>\n", |
|
|
1537 |
" <td>G</td>\n", |
|
|
1538 |
" <td>Y</td>\n", |
|
|
1539 |
" <td>ADD</td>\n", |
|
|
1540 |
" <td>996</td>\n", |
|
|
1541 |
" <td>1.004930</td>\n", |
|
|
1542 |
" <td>0.386700</td>\n", |
|
|
1543 |
" <td>0.012715</td>\n", |
|
|
1544 |
" <td>0.989855</td>\n", |
|
|
1545 |
" <td>.</td>\n", |
|
|
1546 |
" <td>rs3865764</td>\n", |
|
|
1547 |
" <td>A</td>\n", |
|
|
1548 |
" <td>996</td>\n", |
|
|
1549 |
" </tr>\n", |
|
|
1550 |
" <tr>\n", |
|
|
1551 |
" <th>542757</th>\n", |
|
|
1552 |
" <td>22</td>\n", |
|
|
1553 |
" <td>51193629</td>\n", |
|
|
1554 |
" <td>rs142680588</td>\n", |
|
|
1555 |
" <td>A</td>\n", |
|
|
1556 |
" <td>G</td>\n", |
|
|
1557 |
" <td>G</td>\n", |
|
|
1558 |
" <td>Y</td>\n", |
|
|
1559 |
" <td>ADD</td>\n", |
|
|
1560 |
" <td>1000</td>\n", |
|
|
1561 |
" <td>1.497360</td>\n", |
|
|
1562 |
" <td>0.267489</td>\n", |
|
|
1563 |
" <td>1.509230</td>\n", |
|
|
1564 |
" <td>0.131240</td>\n", |
|
|
1565 |
" <td>.</td>\n", |
|
|
1566 |
" <td>rs142680588</td>\n", |
|
|
1567 |
" <td>A</td>\n", |
|
|
1568 |
" <td>1000</td>\n", |
|
|
1569 |
" </tr>\n", |
|
|
1570 |
" </tbody>\n", |
|
|
1571 |
"</table>\n", |
|
|
1572 |
"<p>542758 rows × 17 columns</p>\n", |
|
|
1573 |
"</div>" |
|
|
1574 |
], |
|
|
1575 |
"text/plain": [ |
|
|
1576 |
" #CHROM POS ID REF ALT A1 FIRTH? TEST OBS_CT \\\n", |
|
|
1577 |
"0 1 756604 rs3131962 G A A Y ADD 999 \n", |
|
|
1578 |
"1 1 768448 rs12562034 G A A Y ADD 996 \n", |
|
|
1579 |
"2 1 779322 rs4040617 A G G Y ADD 996 \n", |
|
|
1580 |
"3 1 801536 rs79373928 T G G Y ADD 998 \n", |
|
|
1581 |
"4 1 808631 rs11240779 A G G Y ADD 994 \n", |
|
|
1582 |
"... ... ... ... .. .. .. ... ... ... \n", |
|
|
1583 |
"542753 22 51174939 rs73174435 C T T Y ADD 999 \n", |
|
|
1584 |
"542754 22 51175626 rs3810648 A G G Y ADD 996 \n", |
|
|
1585 |
"542755 22 51183255 rs5771002 G A A Y ADD 981 \n", |
|
|
1586 |
"542756 22 51185848 rs3865764 A G G Y ADD 996 \n", |
|
|
1587 |
"542757 22 51193629 rs142680588 A G G Y ADD 1000 \n", |
|
|
1588 |
"\n", |
|
|
1589 |
" OR LOG(OR)_SE Z_STAT P ERRCODE SNP A2 N \n", |
|
|
1590 |
"0 1.241130 0.209870 1.029320 0.303330 . rs3131962 G 999 \n", |
|
|
1591 |
"1 0.433894 0.285912 -2.920330 0.003497 . rs12562034 G 996 \n", |
|
|
1592 |
"2 1.178310 0.211892 0.774379 0.438707 . rs4040617 A 996 \n", |
|
|
1593 |
"3 0.989852 0.479159 -0.021286 0.983018 . rs79373928 T 998 \n", |
|
|
1594 |
"4 0.880382 0.173114 -0.735930 0.461773 . rs11240779 A 994 \n", |
|
|
1595 |
"... ... ... ... ... ... ... .. ... \n", |
|
|
1596 |
"542753 0.642727 0.362564 -1.219190 0.222772 . rs73174435 C 999 \n", |
|
|
1597 |
"542754 0.752885 0.286799 -0.989690 0.322326 . rs3810648 A 996 \n", |
|
|
1598 |
"542755 0.792577 0.150356 -1.546100 0.122080 . rs5771002 G 981 \n", |
|
|
1599 |
"542756 1.004930 0.386700 0.012715 0.989855 . rs3865764 A 996 \n", |
|
|
1600 |
"542757 1.497360 0.267489 1.509230 0.131240 . rs142680588 A 1000 \n", |
|
|
1601 |
"\n", |
|
|
1602 |
"[542758 rows x 17 columns]" |
|
|
1603 |
] |
|
|
1604 |
}, |
|
|
1605 |
"execution_count": 4, |
|
|
1606 |
"metadata": {}, |
|
|
1607 |
"output_type": "execute_result" |
|
|
1608 |
} |
|
|
1609 |
], |
|
|
1610 |
"source": [ |
|
|
1611 |
"data.load_gwas_subsample(pheno = 'body_BALDING1', sample_size = 1000, seed = 1)\n", |
|
|
1612 |
"data.lr_uni" |
|
|
1613 |
] |
|
|
1614 |
}, |
|
|
1615 |
{ |
|
|
1616 |
"cell_type": "markdown", |
|
|
1617 |
"metadata": {}, |
|
|
1618 |
"source": [ |
|
|
1619 |
"You can also load the full cohort GWAS for these 21 traits via:" |
|
|
1620 |
] |
|
|
1621 |
}, |
|
|
1622 |
{ |
|
|
1623 |
"cell_type": "code", |
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|
1624 |
"execution_count": null, |
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|
1625 |
"metadata": {}, |
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|
1626 |
"outputs": [ |
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1627 |
{ |
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1628 |
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1629 |
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1641 |
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1642 |
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1643 |
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1644 |
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1645 |
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|
1646 |
" <tr style=\"text-align: right;\">\n", |
|
|
1647 |
" <th></th>\n", |
|
|
1648 |
" <th>#CHROM</th>\n", |
|
|
1649 |
" <th>ID</th>\n", |
|
|
1650 |
" <th>POS</th>\n", |
|
|
1651 |
" <th>A1</th>\n", |
|
|
1652 |
" <th>A2</th>\n", |
|
|
1653 |
" <th>N</th>\n", |
|
|
1654 |
" <th>AF1</th>\n", |
|
|
1655 |
" <th>BETA</th>\n", |
|
|
1656 |
" <th>SE</th>\n", |
|
|
1657 |
" <th>P</th>\n", |
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|
1658 |
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|
1659 |
" </thead>\n", |
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|
1660 |
" <tbody>\n", |
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|
1661 |
" <tr>\n", |
|
|
1662 |
" <th>0</th>\n", |
|
|
1663 |
" <td>1</td>\n", |
|
|
1664 |
" <td>rs3131962</td>\n", |
|
|
1665 |
" <td>756604</td>\n", |
|
|
1666 |
" <td>A</td>\n", |
|
|
1667 |
" <td>G</td>\n", |
|
|
1668 |
" <td>407023</td>\n", |
|
|
1669 |
" <td>0.129655</td>\n", |
|
|
1670 |
" <td>0.000286</td>\n", |
|
|
1671 |
" <td>0.001048</td>\n", |
|
|
1672 |
" <td>0.784760</td>\n", |
|
|
1673 |
" </tr>\n", |
|
|
1674 |
" <tr>\n", |
|
|
1675 |
" <th>1</th>\n", |
|
|
1676 |
" <td>1</td>\n", |
|
|
1677 |
" <td>rs12562034</td>\n", |
|
|
1678 |
" <td>768448</td>\n", |
|
|
1679 |
" <td>A</td>\n", |
|
|
1680 |
" <td>G</td>\n", |
|
|
1681 |
" <td>407057</td>\n", |
|
|
1682 |
" <td>0.104966</td>\n", |
|
|
1683 |
" <td>-0.001491</td>\n", |
|
|
1684 |
" <td>0.001147</td>\n", |
|
|
1685 |
" <td>0.193592</td>\n", |
|
|
1686 |
" </tr>\n", |
|
|
1687 |
" <tr>\n", |
|
|
1688 |
" <th>2</th>\n", |
|
|
1689 |
" <td>1</td>\n", |
|
|
1690 |
" <td>rs4040617</td>\n", |
|
|
1691 |
" <td>779322</td>\n", |
|
|
1692 |
" <td>G</td>\n", |
|
|
1693 |
" <td>A</td>\n", |
|
|
1694 |
" <td>406623</td>\n", |
|
|
1695 |
" <td>0.127520</td>\n", |
|
|
1696 |
" <td>0.000108</td>\n", |
|
|
1697 |
" <td>0.001056</td>\n", |
|
|
1698 |
" <td>0.918404</td>\n", |
|
|
1699 |
" </tr>\n", |
|
|
1700 |
" <tr>\n", |
|
|
1701 |
" <th>3</th>\n", |
|
|
1702 |
" <td>1</td>\n", |
|
|
1703 |
" <td>rs79373928</td>\n", |
|
|
1704 |
" <td>801536</td>\n", |
|
|
1705 |
" <td>G</td>\n", |
|
|
1706 |
" <td>T</td>\n", |
|
|
1707 |
" <td>407517</td>\n", |
|
|
1708 |
" <td>0.014884</td>\n", |
|
|
1709 |
" <td>0.004382</td>\n", |
|
|
1710 |
" <td>0.002904</td>\n", |
|
|
1711 |
" <td>0.131349</td>\n", |
|
|
1712 |
" </tr>\n", |
|
|
1713 |
" <tr>\n", |
|
|
1714 |
" <th>4</th>\n", |
|
|
1715 |
" <td>1</td>\n", |
|
|
1716 |
" <td>rs11240779</td>\n", |
|
|
1717 |
" <td>808631</td>\n", |
|
|
1718 |
" <td>G</td>\n", |
|
|
1719 |
" <td>A</td>\n", |
|
|
1720 |
" <td>404493</td>\n", |
|
|
1721 |
" <td>0.224886</td>\n", |
|
|
1722 |
" <td>-0.001155</td>\n", |
|
|
1723 |
" <td>0.000846</td>\n", |
|
|
1724 |
" <td>0.172345</td>\n", |
|
|
1725 |
" </tr>\n", |
|
|
1726 |
" <tr>\n", |
|
|
1727 |
" <th>...</th>\n", |
|
|
1728 |
" <td>...</td>\n", |
|
|
1729 |
" <td>...</td>\n", |
|
|
1730 |
" <td>...</td>\n", |
|
|
1731 |
" <td>...</td>\n", |
|
|
1732 |
" <td>...</td>\n", |
|
|
1733 |
" <td>...</td>\n", |
|
|
1734 |
" <td>...</td>\n", |
|
|
1735 |
" <td>...</td>\n", |
|
|
1736 |
" <td>...</td>\n", |
|
|
1737 |
" <td>...</td>\n", |
|
|
1738 |
" </tr>\n", |
|
|
1739 |
" <tr>\n", |
|
|
1740 |
" <th>542753</th>\n", |
|
|
1741 |
" <td>22</td>\n", |
|
|
1742 |
" <td>rs73174435</td>\n", |
|
|
1743 |
" <td>51174939</td>\n", |
|
|
1744 |
" <td>T</td>\n", |
|
|
1745 |
" <td>C</td>\n", |
|
|
1746 |
" <td>407201</td>\n", |
|
|
1747 |
" <td>0.053846</td>\n", |
|
|
1748 |
" <td>-0.001980</td>\n", |
|
|
1749 |
" <td>0.001559</td>\n", |
|
|
1750 |
" <td>0.203959</td>\n", |
|
|
1751 |
" </tr>\n", |
|
|
1752 |
" <tr>\n", |
|
|
1753 |
" <th>542754</th>\n", |
|
|
1754 |
" <td>22</td>\n", |
|
|
1755 |
" <td>rs3810648</td>\n", |
|
|
1756 |
" <td>51175626</td>\n", |
|
|
1757 |
" <td>G</td>\n", |
|
|
1758 |
" <td>A</td>\n", |
|
|
1759 |
" <td>404901</td>\n", |
|
|
1760 |
" <td>0.060979</td>\n", |
|
|
1761 |
" <td>0.001922</td>\n", |
|
|
1762 |
" <td>0.001474</td>\n", |
|
|
1763 |
" <td>0.192116</td>\n", |
|
|
1764 |
" </tr>\n", |
|
|
1765 |
" <tr>\n", |
|
|
1766 |
" <th>542755</th>\n", |
|
|
1767 |
" <td>22</td>\n", |
|
|
1768 |
" <td>rs5771002</td>\n", |
|
|
1769 |
" <td>51183255</td>\n", |
|
|
1770 |
" <td>A</td>\n", |
|
|
1771 |
" <td>G</td>\n", |
|
|
1772 |
" <td>401398</td>\n", |
|
|
1773 |
" <td>0.333603</td>\n", |
|
|
1774 |
" <td>-0.000165</td>\n", |
|
|
1775 |
" <td>0.000751</td>\n", |
|
|
1776 |
" <td>0.826494</td>\n", |
|
|
1777 |
" </tr>\n", |
|
|
1778 |
" <tr>\n", |
|
|
1779 |
" <th>542756</th>\n", |
|
|
1780 |
" <td>22</td>\n", |
|
|
1781 |
" <td>rs3865764</td>\n", |
|
|
1782 |
" <td>51185848</td>\n", |
|
|
1783 |
" <td>G</td>\n", |
|
|
1784 |
" <td>A</td>\n", |
|
|
1785 |
" <td>406611</td>\n", |
|
|
1786 |
" <td>0.050601</td>\n", |
|
|
1787 |
" <td>-0.001311</td>\n", |
|
|
1788 |
" <td>0.001605</td>\n", |
|
|
1789 |
" <td>0.413994</td>\n", |
|
|
1790 |
" </tr>\n", |
|
|
1791 |
" <tr>\n", |
|
|
1792 |
" <th>542757</th>\n", |
|
|
1793 |
" <td>22</td>\n", |
|
|
1794 |
" <td>rs142680588</td>\n", |
|
|
1795 |
" <td>51193629</td>\n", |
|
|
1796 |
" <td>G</td>\n", |
|
|
1797 |
" <td>A</td>\n", |
|
|
1798 |
" <td>407108</td>\n", |
|
|
1799 |
" <td>0.075912</td>\n", |
|
|
1800 |
" <td>-0.002861</td>\n", |
|
|
1801 |
" <td>0.001329</td>\n", |
|
|
1802 |
" <td>0.031362</td>\n", |
|
|
1803 |
" </tr>\n", |
|
|
1804 |
" </tbody>\n", |
|
|
1805 |
"</table>\n", |
|
|
1806 |
"<p>542758 rows × 10 columns</p>\n", |
|
|
1807 |
"</div>" |
|
|
1808 |
], |
|
|
1809 |
"text/plain": [ |
|
|
1810 |
" #CHROM ID POS A1 A2 N AF1 BETA \\\n", |
|
|
1811 |
"0 1 rs3131962 756604 A G 407023 0.129655 0.000286 \n", |
|
|
1812 |
"1 1 rs12562034 768448 A G 407057 0.104966 -0.001491 \n", |
|
|
1813 |
"2 1 rs4040617 779322 G A 406623 0.127520 0.000108 \n", |
|
|
1814 |
"3 1 rs79373928 801536 G T 407517 0.014884 0.004382 \n", |
|
|
1815 |
"4 1 rs11240779 808631 G A 404493 0.224886 -0.001155 \n", |
|
|
1816 |
"... ... ... ... .. .. ... ... ... \n", |
|
|
1817 |
"542753 22 rs73174435 51174939 T C 407201 0.053846 -0.001980 \n", |
|
|
1818 |
"542754 22 rs3810648 51175626 G A 404901 0.060979 0.001922 \n", |
|
|
1819 |
"542755 22 rs5771002 51183255 A G 401398 0.333603 -0.000165 \n", |
|
|
1820 |
"542756 22 rs3865764 51185848 G A 406611 0.050601 -0.001311 \n", |
|
|
1821 |
"542757 22 rs142680588 51193629 G A 407108 0.075912 -0.002861 \n", |
|
|
1822 |
"\n", |
|
|
1823 |
" SE P \n", |
|
|
1824 |
"0 0.001048 0.784760 \n", |
|
|
1825 |
"1 0.001147 0.193592 \n", |
|
|
1826 |
"2 0.001056 0.918404 \n", |
|
|
1827 |
"3 0.002904 0.131349 \n", |
|
|
1828 |
"4 0.000846 0.172345 \n", |
|
|
1829 |
"... ... ... \n", |
|
|
1830 |
"542753 0.001559 0.203959 \n", |
|
|
1831 |
"542754 0.001474 0.192116 \n", |
|
|
1832 |
"542755 0.000751 0.826494 \n", |
|
|
1833 |
"542756 0.001605 0.413994 \n", |
|
|
1834 |
"542757 0.001329 0.031362 \n", |
|
|
1835 |
"\n", |
|
|
1836 |
"[542758 rows x 10 columns]" |
|
|
1837 |
] |
|
|
1838 |
}, |
|
|
1839 |
"execution_count": 7, |
|
|
1840 |
"metadata": {}, |
|
|
1841 |
"output_type": "execute_result" |
|
|
1842 |
} |
|
|
1843 |
], |
|
|
1844 |
"source": [ |
|
|
1845 |
"data.load_full_gwas(pheno = 'body_BALDING1')\n", |
|
|
1846 |
"data.lr_uni" |
|
|
1847 |
] |
|
|
1848 |
}, |
|
|
1849 |
{ |
|
|
1850 |
"cell_type": "markdown", |
|
|
1851 |
"metadata": {}, |
|
|
1852 |
"source": [ |
|
|
1853 |
"This is the basic KGWAS interface! Check out the other notebooks for other capabilities of KGWAS!" |
|
|
1854 |
] |
|
|
1855 |
} |
|
|
1856 |
], |
|
|
1857 |
"metadata": { |
|
|
1858 |
"kernelspec": { |
|
|
1859 |
"display_name": "a100_env", |
|
|
1860 |
"language": "python", |
|
|
1861 |
"name": "python3" |
|
|
1862 |
}, |
|
|
1863 |
"language_info": { |
|
|
1864 |
"codemirror_mode": { |
|
|
1865 |
"name": "ipython", |
|
|
1866 |
"version": 3 |
|
|
1867 |
}, |
|
|
1868 |
"file_extension": ".py", |
|
|
1869 |
"mimetype": "text/x-python", |
|
|
1870 |
"name": "python", |
|
|
1871 |
"nbconvert_exporter": "python", |
|
|
1872 |
"pygments_lexer": "ipython3", |
|
|
1873 |
"version": "3.8.0" |
|
|
1874 |
} |
|
|
1875 |
}, |
|
|
1876 |
"nbformat": 4, |
|
|
1877 |
"nbformat_minor": 2 |
|
|
1878 |
} |