{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["100,000 Genomes Project Pilot Investigators"],"funding":["NICHD NIH HHS","Action Medical Research","Fight for Sight","Versus Arthritis","NIH Office of the Director","Cancer Research U.K.","Ataxia UK","Sight Research UK","NHS England","Medical Research Council","National Institute for Health Research (NIHR)","NHGRI NIH HHS","Muscular Dystrophy UK","Wellcome Trust","NIH HHS"],"pagination":["1868-1880"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7613219"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["385(20)"],"pubmed_abstract":["<h4>Background</h4>The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection.<h4>Methods</h4>We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research"],"journal":["The New England journal of medicine"],"pubmed_title":["100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report."],"pmcid":["PMC7613219"],"funding_grant_id":["NF-SI-0616-10099","5-UM1-HG006370","MC_PC_14089","ACF-2016-14-010","R01 HD103805","MR/S005021/1","RA4/0924","UM1 HG006370","HDR-9004","G1002570","U24 HG011449","MR/N027302/2","MR/N027302/1","1570/1571","ZHORVATH","MR/R013926/1","109915/A/15/Z","MC_UU_00015/9","MR/N010035/1","ICA-CDRF-2015-01-046","MR/N008324/1","MR/N025431/2","MR/V009346/1","MR/N025431/1","MR/M009203/1","U54 HG006370","NF-SI-0507-10376","NIHR200158","21552","R24 OD011883","21593","NF-SI-0617-10154","2063","1R24OD011883","1479/80","MR/S006753/1","212219/Z/18/Z","MC_EX_MR/M009203/1","MC_PC_18030","24TP171","NF-SI-0513-10141","G0701386","NF-SI-0512-10113","SEE 003","212219","G0100496","G1000848"],"pubmed_authors":["Woods K","Bitner-Glindzicz M","Taylor JC","Mohammed S","Bentley D","Williams E","Douglas A","Wood NW","Taylor J","James R","Burrows N","Patel S","Welland M","Arno G","Spasic-Boskovic O","Moore AT","Bradley JR","Matchan A","Jacobsen JO","Temple IK","Lester T","Palles C","Hall G","Flinter F","Thomas HB","Gibson K","Scott RH","McDonagh EM","Poole K","Bleda M","Patch C","Webster AR","Wei W","Ruddy D","Polychronopoulos D","Vestito L","Boustred C","Crichton C","Thomas EA","Cipriani V","Leong IUS","Rehmstrom K","Wielscher M","Camps C","Bale M","Yu-Wai-Man P","Leigh S","Irving M","de Burca A","Yip J","Devereau A","Hill S","Wallis C","Fowler T","McFarland R","Abulhoul L","Ratnaike T","Wagner A","O'Connor E","Mehta SG","Houlden H","Li E","Beales P","Nemeth AH","Williams HJ","Compton C","O'Keefe RT","Turnbull DM","Simpson MA","Savage H","Izatt L","Moutsianas L","Kasperaviciute D","Ellard S","Wedderburn LR","Ibanez K","Chitty L","Snow C","McMullan D","Pilkington C","Douzgou S","Gurnell M","Kasanicki M","Muntoni F","Browning AC","Michaelides M","Tavares ALT","Martin A","Burns G","Haendel M","Wilkie AOM","Clayton-Smith J","Dattani M","Wood S","Hunter S","Sultana R","Smith KR","Bockenhauer D","Quinlivan R","Burn J","Chan G","Turnbull C","Reese MG","Chinnery PF","Thapar N","Worth A","Twiss P","Grunewald S","Polke J","Welch J","Davies J","Habib B","Tucci A","Morris HR","Vandrovcova J","Newman W","Graf S","Buchanan J","Roy NBA","Raymond FL","Halsall S","Josifova D","Grocock RJ","Mapeta R","Compeyrot-Lacassagne S","Halai D","Banka S","Ouwehand WH","Shaw AC","Newland K","Pontikos N","Deshpande C","Rendon A","Black G","Ashford S","Haraldsdottir E","Broomfield A","Davison V","Robinson PN","Taylor RW","Wilson G","Wolejko A","Sarkany R","Cleary MA","Elliott P","Haworth A","100,000 Genomes Project Pilot Investigators","Say G","Need A","Tregidgo C","Daugherty LC","Aurora P","Ganesan V","Hyder Z","Ellingford JM","Wordsworth S","Haque E","Wright CF","Straub V","Sen A","Fassihi H","Brennan P","Naresh K","Bueser T","Schaefer AM","Malka S","Barnes MR","Niblock O","Mumford AD","Penkett C","Chisholm J","Quinton R","Rahman S","Robert L","Brittain H","Seaby EG","Ryten M","Dewhurst E","Humphray SJ","Footitt E","Rose S","Smedley D","Koelling N","Sayer JA","Caulfield M","Foulger RE","Horvath R","Cacheiro P","Lam T","Baple E","Gorman GS","Babcock M","Floto RA","Stirrups K","Campbell C","Fuller G"],"additional_accession":[]},"is_claimable":false,"name":"100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.","description":"<h4>Background</h4>The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection.<h4>Methods</h4>We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Nov","modification":"2025-04-04T02:25:40.162Z","creation":"2025-02-19T00:42:27.817Z"},"accession":"S-EPMC7613219","cross_references":{"pubmed":["34758253"],"doi":["10.1056/NEJMoa2035790"]}}