Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
作者： Tomasz Gambin , Zeynep C. Akdemir , Bo Yuan , Shen Gu , Theodore Chiang
DOI: 10.1093/NAR/GKW1237
关键词:
摘要: We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data to identify rare and intragenic homozygous hemizygous (HMZ) deletions may represent complete loss-of-function of the indicated gene. HMZDelFinder was applied 4866 samples in Baylor-Hopkins Center for Mendelian Genomics (BHCMG) cohort detected 773 HMZ deletion calls (567 or 206 hemizygous) with estimated sensitivity 86.5% (82% single-exonic 88% multi-exonic calls) precision 78% (53% 96% calls). Out HMZDelFinder-detected calls, 82 were subjected array comparative genomic hybridization (aCGH) and/or breakpoint PCR 64 confirmed. These include 18 single-exon out which 8 exclusively by not any seven other CNV detection tools examined. Further investigation validated revealed at least 15 pathogenic deletions. Of those, 7 accounted 17-50% CNVs different disease cohorts where 7.1-11% molecular diagnosis solved rate attributed CNVs. In summary, we present algorithm detect rare, intragenic, using WES data; this tool can be useful gene discovery efforts clinical analyses.
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