Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations

被引：6
|
作者：
Whiffin, Nicola [1 ,2 ,3 ,4 ]
Ware, James S. [1 ,2 ,3 ,4 ]
O'Donnell-Luria, Anne [4 ,5 ,6 ]
机构：
[1] Imperial Coll London, Natl Heart & Lung Inst, London, England
[2] Royal Brompton & Harefield NHS Fdn Trust, Cardiovasc Res Ctr, London, England
[3] Imperial Coll London, MRC London Inst Med Sci, London, England
[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
[5] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
[6] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
来源：
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION | 2019年 / 322卷 / 13期
基金：
英国医学研究理事会; 英国惠康基金; 美国国家卫生研究院;
关键词：
IMPACT;
D O I：
10.1001/jama.2019.12891
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1305 / 1306
页数：2
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