Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins-Reference-Cited by-同舟云学术

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Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

Published:2014-03-12 Issue:2 Volume:16 Page:255-264
ISSN:1477-4054
Container-title:Briefings in Bioinformatics
language:en
Short-container-title:

Author:

Yourshaw Michael,Taylor S. Paige,Rao Aliz R.,Martín Martín G.,Nelson Stanley F.

Publisher

Oxford University Press (OUP)

Subject

Molecular Biology,Information Systems

Link

http://academic.oup.com/bib/article-pdf/16/2/255/17485558/bbu008.pdf

Reference33 articles.

1. Human genome sequencing in health and disease;Gonzaga-Jauregui;Annu Rev Med,2012

2. Next-generation DNA sequencing;Shendure;Nat Biotechnol,2008

3. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011

4. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration;Wan;Nat Genet,2012

5. A survey of tools for variant analysis of next-generation genome sequencing data;Pabinger;Brief Bioinform,2014

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