{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gratten J"],"funding":["Motor Neurone Disease Research Institute of Australia","NIA NIH HHS","Peter Goodenough Foundation","National Natural Science Foundation of China","National Health and Medical Research Council","Sylvia and Charles Viertel Charitable Foundation","NIAMS NIH HHS","Australian Research Council"],"pagination":["97"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5693798"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(1)"],"pubmed_abstract":["<h4>Background</h4>Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry. The importance of trans-ethnic studies in human genetic studies is widely recognised, yet a dearth of studies of non-European ancestries remains. Here, we report analyses of novel whole-exome sequencing (WES) data from Chinese ALS and control individuals.<h"],"journal":["Genome medicine"],"pubmed_title":["Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese."],"pmcid":["PMC5693798"],"funding_grant_id":["1127440","1103418","Ross Maclean Senior Research Fellowship","U19 AG055373","R01 AR069055","81522014","81601105","Ross Maclean Senior Research Fellowships","Linkage Grant"],"pubmed_authors":["Wu J","Ran S","Wray NR","Gratten J","Lin Y","Han YY","Garton F","Liu X","Tang L","Zhao Q","Leo PJ","Benyamin B","Wheeler L","Song S","Henders AK","Tan LJ","Fan D","Mangelsdorf M","Marshall M","Yang J","Bartlett PF","Brown MA","Visscher PM","He J","Chen XD","Edson J","Chen L","Deng HW","Xu H","Mowry BJ","Anderson L","Li Z","Wallace RH","Zhang ZH","Cremin K","Jin ZB","Reutens DC","Harris J"],"additional_accession":[]},"is_claimable":false,"name":"Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.","description":"<h4>Background</h4>Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry. The importance of trans-ethnic studies in human genetic studies is widely recognised, yet a dearth of studies of non-European ancestries remains. Here, we report analyses of novel whole-exome sequencing (WES) data from Chinese ALS and control individuals.<h","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Nov","modification":"2025-04-04T21:25:35.077Z","creation":"2019-03-27T03:02:22Z"},"accession":"S-EPMC5693798","cross_references":{"pubmed":["29149916"],"doi":["10.1186/s13073-017-0487-0"]}}