Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

摘要: Detection of copy-number variation (CNV) is important for investigating many genetic disorders. Testing a large clinical cohort by array comparative genomic hybridization provides deep perspective on the spectrum pathogenic CNV. In this context, we describe bioinformatics approach to extract CNV information from whole-exome sequencing and demonstrate its utility in testing. Exon-focused arrays whole-genome chromosomal microarray analysis were used test 14,228 14,000 individuals, respectively. Based these results, developed an algorithm detect deletions/duplications data novel array. exon cohort, observed positive detection rate 2.4% (25 duplications, 318 deletions), which 39% involved one or two exons. Chromosomal identified 3,345 CNVs affecting single genes (18%). We that our resolves three more These results single-exon resolution assays. Our approaches but complemented unambiguously identify intragenic changes. illustrate next advancements through Genet Med 17 8, 623–629.