Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations
JAMA
.
2019 Oct 1;322(13):1305-1306.
doi: 10.1001/jama.2019.12891.
Authors
Nicola Whiffin
1
2
3
4
,
James S Ware
1
2
3
4
,
Anne O'Donnell-Luria
4
5
6
Affiliations
1
National Heart and Lung Institute, Imperial College London, London, United Kingdom.
2
Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, London, United Kingdom.
3
MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
4
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
5
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
6
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston.
PMID:
31469401
DOI:
10.1001/jama.2019.12891
No abstract available
Grants and funding
MC_UP_1102/20/MRC_/Medical Research Council/United Kingdom