{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wright CF"],"funding":["Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["571-575"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7935711"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(3)"],"pubmed_abstract":["<h4>Purpose</h4>Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines.<h4>Methods</h4>We evaluated variants that were previously classified as pathogenic or likely pathogenic in ClinVar in known developmental disorder genes using exome sequence data from the Deciphering Developmental Disorders (DDD) study.<h4>Results</h4>Of these ClinVar pathogenic variants, 3.6% were identified among 13,462 DDD probands, and 1134/1352 (83.9%) had already been independently communicated to clinicians using DDD variant filtering pipelines as plausibly pathogenic. The remaining 218 varia"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Evaluating variants classified as pathogenic in ClinVar in the DDD Study."],"pmcid":["PMC7935711"],"funding_grant_id":["HICF-1009-003","MC_UU_00007/3","098051"],"pubmed_authors":["Firth HV","FitzPatrick DR","DDD Study","Wright CF","Constantinou P","Hurles ME","Eberhardt RY"],"additional_accession":[]},"is_claimable":false,"name":"Evaluating variants classified as pathogenic in ClinVar in the DDD Study.","description":"<h4>Purpose</h4>Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines.<h4>Methods</h4>We evaluated variants that were previously classified as pathogenic or likely pathogenic in ClinVar in known developmental disorder genes using exome sequence data from the Deciphering Developmental Disorders (DDD) study.<h4>Results</h4>Of these ClinVar pathogenic variants, 3.6% were identified among 13,462 DDD probands, and 1134/1352 (83.9%) had already been independently communicated to clinicians using DDD variant filtering pipelines as plausibly pathogenic. The remaining 218 varia","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2025-04-05T14:34:20.41Z","creation":"2025-04-05T14:34:20.41Z"},"accession":"S-EPMC7935711","cross_references":{"pubmed":["33149276"],"doi":["10.1038/s41436-020-01021-9"]}}