biostudies-literatureUnknown2Danecek PWellcome Trust<h4>Purpose</h4>Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.<h4>Methods</h4>We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.<h4>Results</h4>Integrating calls from multiple ES-based CNV algorithms usGenetics in medicine open101818https://www.ebi.ac.uk/biostudies/studies/S-EPMC11613862biostudies-literatureDetection and characterization of copy-number variants from exome sequencing in the DDD study.PMC11613862Firth HVFitzgerald TWWright CFGallone GGardner EJDanecek PHurles MEEberhardt RYKaplanis JfalseDetection and characterization of copy-number variants from exome sequencing in the DDD study.<h4>Purpose</h4>Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.<h4>Methods</h4>We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.<h4>Results</h4>Integrating calls from multiple ES-based CNV algorithms us2024-01-01T00:00:00Z20242026-06-03T00:55:21.568Z2026-04-22T03:12:09.817ZS-EPMC116138623966963010.1016/j.gimo.2024.101818