{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hastings R"],"funding":["British Heart Foundation","Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["426-435"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5068189"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(5)"],"pubmed_abstract":["<h4>Background</h4>High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging.<h4>Methods and results</h4>Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy. A missense mutation in the giant protein titin is the only plausible disease-causing variant that segregates with disease among the 7 surviving affected individuals, with interrogation of the entire genome excluding other potential causes. This A178D missense mutation, a"],"journal":["Circulation. Cardiovascular genetics"],"pubmed_title":["Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction."],"pmcid":["PMC5068189"],"funding_grant_id":["MR/J010456/1","RG/12/16/29939","RE/13/1/30181","MR/K015664/1","NIHR-HCS-D13-04-006","RG/15/8/31480","FS/12/40/29712","201543/Z/16/Z","090532/Z/09/Z","CH/08/001/25300","PG/15/113/31944","090532"],"pubmed_authors":["Arnold L","Konarev PV","Ghisleni A","Taylor JC","de Villiers CP","Knight SJ","Gautel M","Hastings R","Ormondroyd L","Wilmanns M","Salatino S","Blair E","Pagnamenta A","Watkins H","Lise S","Gehmlich K","Hooper C","Thomson KL","Ehler E","Chatziefthimiou SD"],"additional_accession":[]},"is_claimable":false,"name":"Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.","description":"<h4>Background</h4>High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging.<h4>Methods and results</h4>Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy. A missense mutation in the giant protein titin is the only plausible disease-causing variant that segregates with disease among the 7 surviving affected individuals, with interrogation of the entire genome excluding other potential causes. This A178D missense mutation, a","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Oct","modification":"2026-06-11T06:28:45.449Z","creation":"2019-03-27T02:26:57Z"},"accession":"S-EPMC5068189","cross_references":{"pubmed":["27625337"],"doi":["10.1161/CIRCGENETICS.116.001431"]}}