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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

29 Nov 2016

Abstract excerpt

We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may represent complete loss-of-function of the indicated gene. HMZDelFinder was applied to 4866 samples in the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) cohort and detected 773 HMZ deletion calls (567 homozygous or 206 hemizygous) with an...

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PMID: 27980096
DOI: 10.1093/nar/gkw1237

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