Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases-Reference-Cited by-同舟云学术

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Published:2016-04-11 Issue:5 Volume:34 Page:531-538
ISSN:1087-0156
Container-title:Nature Biotechnology
language:en
Short-container-title:Nat Biotechnol

Author:

Chen Rong^ORCID,Shi Lisong,Hakenberg Jörg,Naughton Brian,Sklar Pamela,Zhang Jianguo,Zhou Hanlin,Tian Lifeng^ORCID,Prakash Om,Lemire Mathieu,Sleiman Patrick,Cheng Wei-yi,Chen Wanting,Shah Hardik,Shen Yulan^ORCID,Fromer Menachem^ORCID,Omberg Larsson,Deardorff Matthew A,Zackai Elaine,Bobe Jason R,Levin Elissa,Hudson Thomas J^ORCID,Groop Leif,Wang Jun,Hakonarson Hakon,Wojcicki Anne,Diaz George A,Edelmann Lisa,Schadt Eric E,Friend Stephen H^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology

Link

http://www.nature.com/articles/nbt.3514.pdf

Reference59 articles.

1. McKusick, V.A. Mendelian Inheritance in Man and its online version, OMIM. Am. J. Hum. Genet. 80, 588–604 (2007).

2. Stenson, P.D. et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 133, 1–9 (2014).

3. Dietz, H.C. New therapeutic approaches to mendelian disorders. N. Engl. J. Med. 363, 852–863 (2010).

4. Topol, E.J. Individualized medicine from prewomb to tomb. Cell 157, 241–253 (2014).

5. Bell, C.J. et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3, 65ra4 (2011).

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