Improving the understanding of genetic variants in rare disease with large-scale reference populations
File(s)
Published version
Author(s)
Whiffin, Nicola
Ware, James S
O'Donnell-Luria, Anne
Type
Journal Article
Abstract
Large-scale sequencing of the human population has shaped the current understanding of naturally occurring genetic sequence variation. Each human genome contains approximately 3 million to 5 million variants, including approximately 30 000 variants in protein-coding genes, when compared with the reference genome. In the case of mendelian conditions, only 1 or 2 of these variants may be relevant to a molecular diagnosis. Many lines of evidence are required to determine whether a particular variant is likely to cause or contribute to the development of disease, but one powerful discriminator is allele frequency. Allele frequency is defined as the proportion of alleles (2 per individual) that carry a particular variant at a specific location in the genome.
Date Issued
2019-10-01
Date Acceptance
2019-08-05
Citation
JAMA: Journal of the American Medical Association, 2019, 322 (13), pp.1305-1306
ISSN
0098-7484
Publisher
American Medical Association (AMA)
Start Page
1305
End Page
1306
Journal / Book Title
JAMA: Journal of the American Medical Association
Volume
322
Issue
13
Copyright Statement
Copyright © 2019 The Author(s). This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
License URL
Sponsor
Wellcome Trust
Department of Health
Wellcome Trust
Rosetrees Trust
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489331900018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Grant Number
100134/Z/12/Z
HICF-R6-373
107469/Z/15/Z
M735
Subjects
General & Internal Medicine
IMPACT
Life Sciences & Biomedicine
Medicine, General & Internal
Science & Technology
Publication Status
Published
Date Publish Online
2019-08-30