{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ibanez K"],"funding":["Rosetrees Trust","Medical Research Council","National Institute for Health Research (NIHR)","Alzheimer's Society","Wellcome Trust","Parkinson's UK"],"pagination":["234-245"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8850201"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["21(3)"],"pubmed_abstract":["<h4>Background</h4>Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who have atypical clinical presentations, especially in paediatric patients without a previous positive family history. Whole genome sequencing is increasingly used as a first-line test for other rare genetic disorders, and we aimed to assess its performance in the diagnosis of patients with neurological repeat expansion disorders.<h4>Methods</h4>We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, AT"],"journal":["The Lancet. Neurology"],"pubmed_title":["Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study."],"pmcid":["PMC8850201"],"funding_grant_id":["G1001253","MR/M009203/1","MR/S01165X/1","MR/K000608/1","MC_PC_14089","MR/L501542/1","MR/K01417X/1","NF-SI-0617-10154","M733","G0701075","PGL19-2 10118","17/90/01","G-0907","MR/S006753/1","UKDRI-1009","022","212219/Z/18/Z","MC_EX_MR/M009203/1","NF-SI-0513-10141","G-1307","NF-SI-0512-10113","MR/J004758/1","G0901254"],"pubmed_authors":["Stevens HE","Schott JM","Taylor JC","Craig CEH","Williams E","Douglas A","Sultana R","Venkata L","Smith KR","Wood NW","Boissiere JM","Walsh E","Hackett J","Maleady-Crowe F","Lahnstein L","Perry DL","Hubbard TJP","WGS for Neurological Diseases Group","Chan G","Labrum R","Welland MJ","Temple IK","Stuckey A","Chinnery PF","Zarowiecki M","Caulfield MJ","Twiss P","Polke J","Hamblin A","Faravelli F","Mueller M","Rosser E","Scott RH","Ambrose JC","Spooner W","McDonagh EM","Festenstein R","Tucci A","Vandrovcova J","Newman W","Bleda M","Thomas ERA","Patch C","Leigh SEA","Sheikh I","Jones LJ","Mason J","Arumugam P","Riesgo-Ferreiro P","Henderson S","Raymond FL","Polychronopoulos D","Santos L","Howard R","Lawson K","Halai D","Murugaesu N","Leong IUS","Holman J","Witkowska K","Bourn D","Dolzhenko E","Rendon A","Perez-Gil D","Deshpande V","Boustred CR","de Burca A","Wilson G","Siddiq A","Ajay SS","Abbs S","Odhams CA","Warner TT","Devereau A","Wood SM","Hill S","Savage K","Angus-Leppan H","Taylor Tavares AL","Fowler T","Daugherty LC","Need A","Tregidgo C","Pullinger J","Hyder Z","Eberle MA","Flinter FA","Laura M","Greenhalgh L","Genomics England Research Consortium","Hagelstrom RT","Eggleton K","Houlden H","Watters SA","Brennan P","Naresh K","Elgar G","Sieghart A","Almheiri G","Davison JE","Bhatia KP","Schrag A","Reilly MM","Taft RJ","Menzies L","Moutsianas L","Hardy J","Brittain H","Kasperaviciute D","Ellard S","Ryten M","Fratta P","Rogers T","Giunti P","Boardman-Pretty F","Oprych K","Chitty LS","McEntagart M","Rajan V","Kayikci M","Thompson SR","Ibanez K","Morris H","Smedley D","McMullan D","Rueda A","Mumford A","Sayer JA","Furio-Tari P","Jackson R","Lopez JF","Deans ZC","Robinson R","Sosinsky A","Chawla A","Foulger RE","Sawant K","Baple E","Pasko D","Rahim T"],"additional_accession":[]},"is_claimable":false,"name":"Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.","description":"<h4>Background</h4>Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who have atypical clinical presentations, especially in paediatric patients without a previous positive family history. Whole genome sequencing is increasingly used as a first-line test for other rare genetic disorders, and we aimed to assess its performance in the diagnosis of patients with neurological repeat expansion disorders.<h4>Methods</h4>We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, AT","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T19:43:19.939Z","creation":"2022-07-19T07:11:28.447Z"},"accession":"S-EPMC8850201","cross_references":{"pubmed":["35182509"],"doi":["10.1016/S1474-4422(21)00462-2"]}}