A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

被引：103

作者：

Boycott, Kym M. ^{[1
]}

Hartley, Taila ^{[1
]}

Biesecker, Leslie G. ^{[2
]}

Gibbs, Richard A. ^{[3
]}

Innes, A. Micheil ^{[4
,5
]}

Riess, Olaf ^{[6
]}

Belmont, John ^{[2
,7
]}

Dunwoodie, Sally L. ^{[8
]}

Jojic, Nebojsa ^{[9
]}

Lassmann, Timo ^{[10
]}

Mackay, Deborah ^{[11
]}

Temple, I. Karen ^{[11
]}

Visel, Axel ^{[12
,13
,14
]}

Baynam, Gareth ^{[15
,16
,17
]}

机构：

[1] Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada

[2] NHGRI, Med Genom & Metab Genet Branch, Bethesda, MD 20892 USA

[3] Baylor Coll Med, Dept Human & Mol Genet, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[4] Univ Calgary, Dept Med Genet, Calgary, AB, Canada

[5] Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Res Inst, Calgary, AB, Canada

[6] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[7] Illumina, Madison, WI USA

[8] Univ New South Wales, Fac Med, Victor Chang Cardiac Res Inst, Sydney, NSW, Australia

[9] Microsoft Res, Seattle, WA USA

[10] Univ Western Australia, Telethon Kids Inst, Nedlands, WA, Australia

[11] Univ Southampton, Fac Med, Dept Human Genet & Genom Med, Southampton, Hants, England

[12] Lawrence Berkeley Natl Lab, Environm Genom & Syst Biol Div, Berkeley, CA USA

[13] US DOE, Joint Genome Inst, Walnut Creek, CA USA

[14] Univ Calif Merced, Merced, CA USA

[15] Univ Western Australia, Med Sch, Fac Hlth & Med Sci, Perth, WA, Australia

[16] Genet Serv Western Australia, Western Australian Register Dev Anomalies, Perth, WA, Australia

[17] Western Australian Dept Hlth, Off Populat Hlth Gen, Perth, WA, Australia

来源：

CELL | 2019年 / 177卷 / 01期

基金：

美国国家卫生研究院; 澳大利亚国家健康与医学研究理事会; 欧盟地平线“2020”;

关键词：

D O I：

10.1016/j.cell.2019.02.040

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.

引用

页码：32 / 37

页数：6

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