[9b26b7]: / deepvariant / testdata.py

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# Copyright 2017 Google LLC.
#
# Redistribution and use in source and binary forms, with or without
# modification, are permitted provided that the following conditions
# are met:
#
# 1. Redistributions of source code must retain the above copyright notice,
# this list of conditions and the following disclaimer.
#
# 2. Redistributions in binary form must reproduce the above copyright
# notice, this list of conditions and the following disclaimer in the
# documentation and/or other materials provided with the distribution.
#
# 3. Neither the name of the copyright holder nor the names of its
# contributors may be used to endorse or promote products derived from this
# software without specific prior written permission.
#
# THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS"
# AND ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE
# IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE
# ARE DISCLAIMED. IN NO EVENT SHALL THE COPYRIGHT HOLDER OR CONTRIBUTORS BE
# LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR
# CONSEQUENTIAL DAMAGES (INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF
# SUBSTITUTE GOODS OR SERVICES; LOSS OF USE, DATA, OR PROFITS; OR BUSINESS
# INTERRUPTION) HOWEVER CAUSED AND ON ANY THEORY OF LIABILITY, WHETHER IN
# CONTRACT, STRICT LIABILITY, OR TORT (INCLUDING NEGLIGENCE OR OTHERWISE)
# ARISING IN ANY WAY OUT OF THE USE OF THIS SOFTWARE, EVEN IF ADVISED OF THE
# POSSIBILITY OF SUCH DAMAGE.
"""Utilities to help with testing DeepVariant code."""
import os
from third_party.nucleus.testing import test_utils as nucleus_test_utils
DEEPVARIANT_DATADIR = ''
def deepvariant_testdata(filename):
"""Gets the path to filename in genomics/deepvariant/testdata.
These paths are only known at runtime, after flag parsing
has occurred.
Args:
filename: The name of a testdata file in the core genomics testdata
directory. For example, if you have a test file in
"learning/genomics/deepvariant/testdata/foo.txt", filename should be
"foo.txt" to get a path to it.
Returns:
The absolute path to a testdata file.
"""
return nucleus_test_utils.genomics_testdata(
os.path.join('deepvariant/testdata', filename), DEEPVARIANT_DATADIR
)
CHR20_FASTA = None
CHR20_BAM = None
CHR20_BAM_FIRST_HALF = None
CHR20_BAM_SECOND_HALF = None
NOCHR20_BAM = None
CHR20_CRAM = None
GOLDEN_TRAINING_EXAMPLES = None
GOLDEN_CALLING_CANDIDATES = None
GOLDEN_CANDIDATE_POSITIONS = None
GOLDEN_CALLING_EXAMPLES = None
GOLDEN_CALLING_EXAMPLES_SHARDED = None
CONFIDENT_REGIONS_BED = None
TRUTH_VARIANTS_VCF = None
TRUTH_VARIANTS_VCF_WITH_TYPES = None
GOLDEN_POSTPROCESS_INPUT = None
GOLDEN_POSTPROCESS_INPUT_SHARDED = None
GOLDEN_POSTPROCESS_OUTPUT = None
GOLDEN_POSTPROCESS_OUTPUT_PASS_ONLY = None
GOLDEN_POSTPROCESS_OUTPUT_COMPRESSED = None
GOLDEN_POSTPROCESS_GVCF_INPUT = None
GOLDEN_POSTPROCESS_GVCF_OUTPUT = None
GOLDEN_POSTPROCESS_GVCF_OUTPUT_COMPRESSED = None
GOLDEN_MAKE_EXAMPLES_RUN_INFO = None
WS_ALLELE_COUNT_LINEAR_MODEL = None
WS_ALLELE_COUNT_LINEAR_MODEL_PCKL = None
WS_VARIANT_READS_THRESHOLD_MODEL = None
GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_INPUT = None
GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_OUTPUT = None
N_GOLDEN_TRAINING_EXAMPLES = 49
N_GOLDEN_CALLING_EXAMPLES = 84
# For CustomizedClassesVariantLabeler:
CUSTOMIZED_CLASSES_GOLDEN_TRAINING_EXAMPLES = None
# For VcfCandidateImporter:
GOLDEN_VCF_CANDIDATE_IMPORTER_TRAINING_EXAMPLES = None
GOLDEN_VCF_CANDIDATE_IMPORTER_CALLING_EXAMPLES = None
VCF_CANDIDATE_IMPORTER_VARIANTS = None
# For alt-aligned pileups:
ALT_ALIGNED_DIFF_CHANNELS_EXAMPLES = None
ALT_ALIGNED_ROWS_EXAMPLES = None
RUNTIME_BY_REGION = None
RUNTIME_BY_REGION_SHARDED = None
# For allele frequency:
VCF_WITH_ALLELE_FREQUENCIES = None
GRCH38_FASTA = None
AF_VCF_CHR20 = None
AF_VCF_CHR21 = None
AF_VCF_CHR20_21_WILDCARD = None
AF_VCF_CHR20_AND_21 = None
GRCH38_CHR20_AND_21_BAM = None
GOLDEN_ALLELE_FREQUENCY_EXAMPLES = None
def init():
"""Initialize global variables from flag values."""
global CHR20_FASTA
global CHR20_BAM
global CHR20_BAM_FIRST_HALF
global CHR20_BAM_SECOND_HALF
global NOCHR20_BAM
global CHR20_CRAM
global GOLDEN_TRAINING_EXAMPLES
global GOLDEN_CALLING_CANDIDATES
global GOLDEN_CANDIDATE_POSITIONS
global GOLDEN_CALLING_EXAMPLES
global GOLDEN_CALLING_EXAMPLES_SHARDED
global CONFIDENT_REGIONS_BED
global TRUTH_VARIANTS_VCF
global TRUTH_VARIANTS_VCF_WITH_TYPES
global GOLDEN_POSTPROCESS_INPUT
global GOLDEN_POSTPROCESS_INPUT_SHARDED
global GOLDEN_POSTPROCESS_OUTPUT
global GOLDEN_POSTPROCESS_OUTPUT_PASS_ONLY
global GOLDEN_POSTPROCESS_OUTPUT_COMPRESSED
global GOLDEN_POSTPROCESS_GVCF_INPUT
global GOLDEN_POSTPROCESS_GVCF_OUTPUT
global GOLDEN_POSTPROCESS_GVCF_OUTPUT_COMPRESSED
global GOLDEN_MAKE_EXAMPLES_RUN_INFO
global WS_ALLELE_COUNT_LINEAR_MODEL
global WS_ALLELE_COUNT_LINEAR_MODEL_PCKL
global WS_VARIANT_READS_THRESHOLD_MODEL
global GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_INPUT
global GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_OUTPUT
CHR20_FASTA = deepvariant_testdata('input/ucsc.hg19.chr20.unittest.fasta.gz')
CHR20_BAM = deepvariant_testdata('input/NA12878_S1.chr20.10_10p1mb.bam')
# # Here is how "NA12878_S1.chr20.10_10p1mb.first_half.bam"
# # and "NA12878_S1.chr20.10_10p1mb.second_half.bam" are split
# # from NA12878_S1.chr20.10_10p1mb.bam.
# READS_FIRST_HALF=${TESTDATA_DIR}/NA12878_S1.chr20.10_10p1mb.first_half.bam
# READS_SECOND_HALF=${TESTDATA_DIR}/NA12878_S1.chr20.10_10p1mb.second_half.bam
# READS=${TESTDATA_DIR}/NA12878_S1.chr20.10_10p1mb.bam
# samtools view -H ${READS} > /tmp/f1.sam
# cp /tmp/f1.sam /tmp/f2.sam
# # Because ${READS} has total of 52035 lines, we split in roughly half.
# samtools view ${READS} | head -26000 >> /tmp/f1.sam
# samtools view ${READS} | tail -26035 >> /tmp/f2.sam
# samtools view -S -b /tmp/f1.sam > ${READS_FIRST_HALF}
# samtools view -S -b /tmp/f2.sam > ${READS_SECOND_HALF}
# samtools index ${READS_FIRST_HALF}
# samtools index ${READS_SECOND_HALF}
CHR20_BAM_FIRST_HALF = deepvariant_testdata(
'input/NA12878_S1.chr20.10_10p1mb.first_half.bam'
)
CHR20_BAM_SECOND_HALF = deepvariant_testdata(
'input/NA12878_S1.chr20.10_10p1mb.second_half.bam'
)
# # Here is how the "HG002_NIST_150bp_downsampled_30x.chr20.10_10p1mb.bam"
# # file was created.
# samtools view -hb HG002_NIST_150bp_downsampled_30x.bam \
# 20:10,000,000-10,100,000 \
# > HG002_NIST_150bp_downsampled_30x.chr20.10_10p1mb.bam
# samtools index HG002_NIST_150bp_downsampled_30x.chr20.10_10p1mb.bam
NOCHR20_BAM = deepvariant_testdata(
'input/HG002_NIST_150bp_downsampled_30x.chr20.10_10p1mb.bam'
)
CHR20_CRAM = deepvariant_testdata('input/NA12878_S1.chr20.10_10p1mb.cram')
GOLDEN_TRAINING_EXAMPLES = deepvariant_testdata(
'golden.training_examples.tfrecord.gz'
)
GOLDEN_CALLING_CANDIDATES = deepvariant_testdata(
'golden.calling_examples.tfrecord.gz'
)
GOLDEN_CANDIDATE_POSITIONS = deepvariant_testdata(
'golden.candidate_positions'
)
GOLDEN_CALLING_EXAMPLES = deepvariant_testdata(
'golden.calling_examples.tfrecord.gz'
)
GOLDEN_CALLING_EXAMPLES_SHARDED = deepvariant_testdata(
'golden.calling_examples.tfrecord.gz@3'
)
CONFIDENT_REGIONS_BED = deepvariant_testdata(
'input/test_nist.b37_chr20_100kbp_at_10mb.bed'
)
TRUTH_VARIANTS_VCF = deepvariant_testdata(
'input/test_nist.b37_chr20_100kbp_at_10mb.vcf.gz'
)
TRUTH_VARIANTS_VCF_WITH_TYPES = deepvariant_testdata(
'input/with_types.test_nist.b37_chr20_4kbp_at_10mb.vcf.gz'
)
GOLDEN_POSTPROCESS_INPUT = deepvariant_testdata(
'golden.postprocess_single_site_input.tfrecord.gz'
)
GOLDEN_POSTPROCESS_INPUT_SHARDED = deepvariant_testdata(
'golden.postprocess_single_site_input-00000-of-00001.tfrecord.gz'
)
GOLDEN_POSTPROCESS_OUTPUT = deepvariant_testdata(
'golden.postprocess_single_site_output.vcf'
)
GOLDEN_POSTPROCESS_OUTPUT_PASS_ONLY = deepvariant_testdata(
'golden.postprocess_single_site_output.pass_only.vcf'
)
GOLDEN_POSTPROCESS_OUTPUT_COMPRESSED = deepvariant_testdata(
'golden.postprocess_single_site_output.vcf.gz'
)
GOLDEN_POSTPROCESS_GVCF_INPUT = deepvariant_testdata(
'golden.postprocess_gvcf_input.tfrecord.gz'
)
GOLDEN_POSTPROCESS_GVCF_OUTPUT = deepvariant_testdata(
'golden.postprocess_gvcf_output.g.vcf'
)
GOLDEN_MAKE_EXAMPLES_RUN_INFO = deepvariant_testdata(
'golden.training_examples.tfrecord.gz.run_info.pbtxt'
)
WS_ALLELE_COUNT_LINEAR_MODEL = deepvariant_testdata(
'obsolete/window_selector_allele_count_linear.pbtxt'
)
WS_ALLELE_COUNT_LINEAR_MODEL_PCKL = deepvariant_testdata(
'obsolete/window_selector_allele_count_linear.pckl'
)
WS_VARIANT_READS_THRESHOLD_MODEL = deepvariant_testdata(
'obsolete/window_selector_variant_read_threshold.pbtxt'
)
GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_INPUT = deepvariant_testdata(
'golden.vcf_candidate_importer_postprocess_single_site_input.tfrecord.gz'
)
GOLDEN_VCF_CANDIDATE_IMPORTER_POSTPROCESS_OUTPUT = deepvariant_testdata(
'golden.vcf_candidate_importer_postprocess_single_site_output.vcf'
)
# For CustomizedClassesVariantLabeler:
global CUSTOMIZED_CLASSES_GOLDEN_TRAINING_EXAMPLES
CUSTOMIZED_CLASSES_GOLDEN_TRAINING_EXAMPLES = deepvariant_testdata(
'customized_classes.golden.training_examples.tfrecord.gz'
)
# For VcfCandidateImporter:
global GOLDEN_VCF_CANDIDATE_IMPORTER_TRAINING_EXAMPLES
global GOLDEN_VCF_CANDIDATE_IMPORTER_CALLING_EXAMPLES
global VCF_CANDIDATE_IMPORTER_VARIANTS
GOLDEN_VCF_CANDIDATE_IMPORTER_TRAINING_EXAMPLES = deepvariant_testdata(
'golden.vcf_candidate_importer.training_examples.tfrecord.gz'
)
GOLDEN_VCF_CANDIDATE_IMPORTER_CALLING_EXAMPLES = deepvariant_testdata(
'golden.vcf_candidate_importer_calling_examples.tfrecord'
)
VCF_CANDIDATE_IMPORTER_VARIANTS = deepvariant_testdata(
'input/vcf_candidate_importer.indels.chr20.vcf.gz'
)
# For alt-aligned pileups:
global ALT_ALIGNED_ROWS_EXAMPLES
global ALT_ALIGNED_DIFF_CHANNELS_EXAMPLES
ALT_ALIGNED_ROWS_EXAMPLES = deepvariant_testdata(
'golden.alt_aligned_pileup_rows_examples.tfrecord.gz'
)
ALT_ALIGNED_DIFF_CHANNELS_EXAMPLES = deepvariant_testdata(
'golden.alt_aligned_pileup_diff_channels_examples.tfrecord.gz'
)
# For runtime-by-region in make_examples:
global RUNTIME_BY_REGION
global RUNTIME_BY_REGION_SHARDED
RUNTIME_BY_REGION = deepvariant_testdata('input/make_examples_runtime.tsv')
RUNTIME_BY_REGION_SHARDED = deepvariant_testdata(
'input/make_examples_runtime@2.tsv'
)
# For allele_frequency with GRCh38:
global VCF_WITH_ALLELE_FREQUENCIES
global GRCH38_FASTA
global AF_VCF_CHR20
global AF_VCF_CHR21
global AF_VCF_CHR20_21_WILDCARD
global AF_VCF_CHR20_AND_21
global GRCH38_CHR20_AND_21_BAM
global GOLDEN_ALLELE_FREQUENCY_EXAMPLES
VCF_WITH_ALLELE_FREQUENCIES = deepvariant_testdata(
'input/allele_frequencies_vcf.vcf.gz'
)
# Fasta filtered to regions: chr20:1-10000000 and chr21:1-10000000.
GRCH38_FASTA = deepvariant_testdata('input/grch38.chr20_and_21_10M.fa.gz')
# VCFs filtered to chr20:1-100000 and chr21:5100000-5200000.
AF_VCF_CHR20 = deepvariant_testdata('input/cohort-chr20_100k.vcf.gz')
AF_VCF_CHR21 = deepvariant_testdata('input/cohort-chr21_100k.vcf.gz')
AF_VCF_CHR20_AND_21 = deepvariant_testdata(
'input/cohort-chr20_and_chr21_100k.vcf.gz'
)
AF_VCF_CHR20_21_WILDCARD = deepvariant_testdata(
'input/cohort-chr2?_100k.vcf.gz'
)
# This bam filtered to regions: chr20:61001-62000 and chr21:5114000-5114999
# and header is edited with the following to match the GRCH38_FASTA:
# @SQ SN:chr20 LN:10000000
# @SQ SN:chr21 LN:10000000
GRCH38_CHR20_AND_21_BAM = deepvariant_testdata(
'input/grch38_1k_subset_chr20_and_chr21.bam'
)
GOLDEN_ALLELE_FREQUENCY_EXAMPLES = deepvariant_testdata(
'golden.allele_frequency_examples.tfrecord.gz'
)