ccmbioinfo / crg2

Research pipeline for exploring clinically relevant genomic variants
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Mutect2 exome-wide calling to detect mosaic variants #161

Closed Madelinehazel closed 1 year ago

Madelinehazel commented 2 years ago

This branch is based on @pamelaxu213's original mosaic branch. Please test this branch along with cre's mcouse/mosaic branch.

The crg2 mosaic pipeline generates an exome-wide report for mosaic variants using GATK Mutect2. The reports will be stored in the “report/gatk_somatic/” folder. This report will be generated for all exomes processed in this branch. Mutect2 can detect variants with allele fractions as low as ~3% with sufficient depth of coverage. Note that I have added the gnomad allele frequency resource as an argument to Mutect2; this allows the caller to predict if a variant is germline based on its allele frequency in the population, and filter it out.

Mutect2 does not perform joint-genotyping, so we merge individual VCFs using bcftools merge.

All positive control sample test runs are located at /hpf/largeprojects/ccmbio/mcouse/C4R/development/test_mosaic_exomewide/