Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals-Reference-Cited by-同舟云学术

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Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

Published:2013-08-05 Issue:9 Volume:34 Page:1216-1220
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cassa Christopher A.¹²³⁴,Tong Mark Y.⁵,Jordan Daniel M.¹²⁶

Affiliation:

1. Brigham and Women's Hospital; Division of Genetics Boston; Massachusetts

2. Division of Genetics; Harvard Medical School; Boston Massachusetts

3. Massachusetts Institute of Technology; Cambridge Massachusetts

4. Broad Institute of Harvard and MIT; Cambridge Massachusetts

5. Center for Biomedical Informatics; Harvard Medical School; Boston Massachusetts

6. Program in Biophysics; Harvard University; Cambridge Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22375/fullpdf

Reference32 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013

2. Exome sequencing makes medical genomics a reality;Biesecker;Nat Genet,2010

3. Biobase/HGMD 2013 What's new at HGMD

4. Medicine. Whole-genome sequencing: the new standard of care;Brunham;Science,2012

5. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility;Cassa;Genome Res,2012

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