{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2"],"submitter":["Danecek P"],"funding":["Wellcome Trust"],"pubmed_abstract":["<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 us"],"journal":["Genetics in medicine open"],"pagination":["101818"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11613862"],"repository":["biostudies-literature"],"pubmed_title":["Detection and characterization of copy-number variants from exome sequencing in the DDD study."],"pmcid":["PMC11613862"],"pubmed_authors":["Firth HV","Fitzgerald TW","Wright CF","Gallone G","Gardner EJ","Danecek P","Hurles ME","Eberhardt RY","Kaplanis J"],"additional_accession":[]},"is_claimable":false,"name":"Detection and characterization of copy-number variants from exome sequencing in the DDD study.","description":"<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 us","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-06-03T00:55:21.568Z","creation":"2026-04-22T03:12:09.817Z"},"accession":"S-EPMC11613862","cross_references":{"pubmed":["39669630"],"doi":["10.1016/j.gimo.2024.101818"]}}