{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zech M"],"funding":["Fondazione Regionale per la Ricerca Biomedica","European Union","DFG Research Infrastructure NGS_CC","Next Generation EU","National Institute for Neurological Research","Federal Ministry of Education and Research"],"pagination":["2827-2846"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12316014"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["148(8)"],"pubmed_abstract":["Dystonia is a rare disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding of the genetic contribution to dystonia, we (re)analysed 2874 whole-exome sequencing (WES), 564 whole-genome sequencing (WGS), as well as 80 fibroblast-derived proteomics datasets, representing the output of high-throughput analyses in 1990 patients and 973 unaffected relatives from 1877 families. Recruitment and precision-phenotyping procedures were driven by long-term collaborations of international experts with access to overlooked populations. By exploring WES data, we found t"],"journal":["Brain : a journal of neurology"],"pubmed_title":["Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia."],"pmcid":["PMC12316014"],"funding_grant_id":["GR-2009-1594645","09I03-03-V03-00007","1/0712/22","NW24-04-0006","SCHO 1644/4-1","ZE 1213/2-1","01GM2302","2022_EKSE.185","WI 1820/14-1","825575","#458949627","01GM1906A","APVV-22-0279","423957469","LX22NPO5107"],"pubmed_authors":["Keren B","Koy A","Mall V","Indelicato E","Saparov A","Graf E","Rektorova I","Zorzi G","Brezna Z","Geerlof A","Prokisch H","Boesch S","Kolnikova M","Krygier M","Kusikova K","Milenkovic I","Monfrini E","Krenn M","Oexle K","Skorvanek M","Kosutzka Z","Tilch E","Havrankova P","Harvanova D","Meitinger T","Haslinger B","Di Fonzo A","Necpal J","Weise D","Kolokotronis K","Afenjar A","Wagner M","Adamovicova M","Rybanska B","Eckenweiler M","Shoeibi A","Santos Dias Mourao A","Schormair B","Jech R","Vetrini F","Harrer P","Ostrozovicova M","Smirnov D","Ulmanova O","Colangelo I","Musacchio T","Winkelmann J","Dzinovic I","Svantnerova J","Vill K","Pavlov M","Berweck S","Zech M","Baumann M","Garavaglia B","Hoffmann GF","Abela L","Brunet T","Baloghova J","Janzarik WG","Conboy E","Hackenberg A","Mertes C","Tautanova R","Kittke V","Zhao C","Assmann B","Distelmaier F","Sadr-Nabavi A","Maier O","Prihodova I","Sorrentino U","Berutti R","Schwenger S","Sitzberger A","Nizon M","Toelle SP","Kopajtich R","Stehr A","Romito LM","Tsoma E","Brugger M","Cogne B"],"additional_accession":[]},"is_claimable":false,"name":"Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.","description":"Dystonia is a rare disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding of the genetic contribution to dystonia, we (re)analysed 2874 whole-exome sequencing (WES), 564 whole-genome sequencing (WGS), as well as 80 fibroblast-derived proteomics datasets, representing the output of high-throughput analyses in 1990 patients and 973 unaffected relatives from 1877 families. Recruitment and precision-phenotyping procedures were driven by long-term collaborations of international experts with access to overlooked populations. By exploring WES data, we found t","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-07-01T03:16:24.719Z","creation":"2025-08-27T03:07:27.211Z"},"accession":"S-EPMC12316014","cross_references":{"pubmed":["39937650"],"doi":["10.1093/brain/awaf059"]}}