{"database":"ENA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"center_name":["VANDERBILT UNIVERSITY MEDICAL CENTER"],"full_dataset_link":["https://www.ebi.ac.uk/ena/browser/view/PRJNA1125511"],"scientific_name":["Homo sapiens"],"long_description":["We identify 9 Type 5 Long QT Syndrome (LQT5) families referred to a single specialty clinic, each carrying p.Asp76Asn, the most common LQT5 variant. We uncover a recent common ancestry and a single shared haplotype among probands. Application of the analysis of shared chromosomal segments to a non-referral, ancestry-matched population of 69,819 BioVU biobank subjects identifies 22 additional subjects sharing this haplotype, which we confirm to carry p.Asp76Asn. Referral and non-referral carriers have prolonged QT interval corrected for heart rate (QTc), compared to controls. Among carriers, the QTc polygenic score is independently associated with QTc prolongation. The summary of phenotypic and genotypic data generated in this study has been deposited in the Database of Genotypes and... (for more see dbGaP study page.)"],"repository":["ENA"],"additional_accession":[]},"is_claimable":false,"name":"Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome","description":"Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome","dates":{"last_updated":"2025-09-24","first_public":"2025-04-28"},"accession":"PRJNA1125511","cross_references":{"taxon":["9606"]}}