Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes-Reference-Cited by-同舟云学术

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Published:2017-08-29 Issue:1 Volume:8 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Balasubramanian Suganthi,Fu Yao,Pawashe Mayur,McGillivray Patrick,Jin Mike^ORCID,Liu Jeremy,Karczewski Konrad J.^ORCID,MacArthur Daniel G.,Gerstein Mark

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-017-00443-5.pdf

Reference72 articles.

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2. MacArthur, D. G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science (80-.) 335, 823–828 (2012).

3. McVean, G. A. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56–65 (2012).

4. 1000 Genomes Project Consortium. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).

5. Sulem, P. et al. Identification of a large set of rare complete human knockouts. Nat. Genet. 47, 448–452 (2015).

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