A genetic compendium of human brains from the UK Medical Research Council brain tissue resource

Common neurodegenerative diseases have a complex genetic architecture. Highly penetrant diseases alleles are found in a significant minority of cases, and common risk alleles are present in a large proportion. Given the central role of genetic factors in the pathogenesis of these disorders, it is critical that mechanistic studies in human subjects and tissue samples are interpreted in an genetically enlightened context. To address this we performed exome sequencing on 1461 human brains accessible through the Medical Research Council (UK) brain banks network. Our findings confirm the complex genetic landscape of neurodegenerative disease. Clinical, pathological and genetic data for the 1461 brains with corresponding exome sequencing data are available within this dataset, enabling the genetic stratification and selection of post-mortem tissue samples for researchers.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 4 Publications

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
EGAD00001001925	1461 Neuropathological and clinically characterised cases from the MRC Brain Bank		1461

Publications	Citations
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF. Genome Res 27: 2017 165-173	33
Frequency and signature of somatic variants in 1461 human brain exomes. Wei W, Keogh MJ, Aryaman J, Golder Z, Kullar PJ, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Sarraj SA, Morris CM, Ansorge O, Jones NS, Ironside JW, Chinnery PF. Genet Med 21: 2019 904-912	13
Germline burden of rare damaging variants negatively affects human healthspan and lifespan. Shindyapina AV, Zenin AA, Tarkhov AE, Santesmasses D, Fedichev PO, Gladyshev VN. Elife 9: 2020 e53449	11
<i>ANGPTL6</i> Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms. Hostettler IC, O'Callaghan B, Bugiardini E, O'Connor E, Vandrovcova J, Davagnanam I, Alg V, Bonner S, Walsh D, Bulters D, Kitchen N, Brown MM, Grieve J, Werring DJ, Houlden H, Genetics and Observational Subarachnoid Haemorrhage (GOSH) study investigators. Neurology 96: 2021 e947-e955	2