Exome sequencing of United Kingdom Brain Expression Consortium samples

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001003100	UKBEC 1st release of Exome data for 65 neuropathologically confirmed control individuals of European descent.	Illumina HiSeq 2000	65

Publications	Citations
Genetic variability in the regulation of gene expression in ten regions of the human brain. Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, UK Brain Expression Consortium, North American Brain Expression Consortium, Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME. Nat Neurosci 17: 2014 1418-1428	415
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM, International Parkinson’s Disease Genetics Consortium (IPGDC), Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Genome Biol 18: 2017 22	63
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M. Nat Commun 11: 2020 1041	13
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR, for International Parkinson’s Disease Genomics Consortium (IPDGC). Hum Mol Genet 30: 2021 78-86	26
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. Soutar MPM, Melandri D, O'Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D'Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H. Brain 145: 2022 4349-4367	15
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs. Kerimov N, Tambets R, Hayhurst JD, Rahu I, Kolberg P, Raudvere U, Kuzmin I, Chowdhary A, Vija A, Teras HJ, Kanai M, Ulirsch J, Ryten M, Hardy J, Guelfi S, Trabzuni D, Kim-Hellmuth S, Rayner W, Finucane H, Peterson H, Mosaku A, Parkinson H, Alasoo K. PLoS Genet 19: 2023 e1010932	0