--- a +++ b/data_prep/README.md @@ -0,0 +1,41 @@ +# Prepare your own patient dataset + +## Preprocessing steps +Your preprocessing script must do the following: +1. Map genes to Ensembl IDs +2. Map phenotypes to the 2019 version of HPO +3. Output a jsonlines file where each json (i.e., line in the file) contains information for a single patient + +Please refer to the `create_mygene2_cohort/preprocess_mygene2.py` for an example preprocessing script. + +## Patient information + +An example patient from the simulated patients dataset: + +``` +{ + "id": 9, + "positive_phenotypes": ["HP:0000221", "HP:0000232", "HP:0001155", "HP:0005692", "HP:0012471", "HP:0100540", "HP:0001999", "HP:0001249", "HP:0010285", "HP:0000924", "HP:0004459"], + "all_candidate_genes": ["ENSG00000196277", "ENSG00000104899", "ENSG00000143156", "ENSG00000088451", "ENSG00000157557", "ENSG00000165125", "ENSG00000157766", "ENSG00000108821", "ENSG00000142655", "ENSG00000184470", "ENSG00000157119", "ENSG00000069431", "ENSG00000131828", "ENSG00000179111", "ENSG00000168646"], + "true_genes": ["ENSG00000069431"], + "true_diseases": ["966"] +} +``` + +### Required + +The minimal information required for each patient are: +- Patient ID ("id") +- List of phenotypes present in the patient as HPO terms ("positive_phenotypes") + +To run causal gene discovery, the json must also include: +- List of all candidate genes as Ensembl IDs ("all_candidate_genes") + +To run patients-like-me identification or novel disease characterization, the json does not require any additional information. + +### Optional +- Causal genes ("true_genes"). *If available, please provide causal genes as Ensembl IDs.* +- Disease names ("true_diseases"). *If available, please provide true disease names as MONDO IDs.* +- Omim ID +- Orphanet ID +- Orphanet category