Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Cooper-Knock, J orcid.org/0000-0002-0873-8689, Zhang, S, Kenna, KP et al. (51 more authors) (2020) Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Reports, 33 (9). 108456. ISSN 2211-1247

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2020 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: amyotrophic lateral sclerosis; whole-genome sequencing; CAV1; CAV2; non-coding DNA; gene enhancers; membrane lipid rafts
Dates:
  • Accepted: 9 November 2020
  • Published (online): 1 December 2020
  • Published: 1 December 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Science (Sheffield) > School of Biological Sciences (Sheffield) > Department of Molecular Biology and Biotechnology (Sheffield)
The University of Sheffield > Sheffield Teaching Hospitals
Funding Information:
FunderGrant number
WELLCOME TRUST (THE)213501/Z/18/Z
WELLCOME TRUST (THE)216596/Z/19/Z
Depositing User: Symplectic Sheffield
Date Deposited: 19 Jan 2021 13:28
Last Modified: 07 Jul 2021 21:35
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.celrep.2020.108456
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