VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance-Reference-Cited by-同舟云学术

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VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

Published:2012-02-24 Issue:4 Volume:33 Page:593-598
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Sincan Murat,Simeonov Dimitre R,Adams David,Markello Thomas C.,Pierson Tyler M.,Toro Camilo,Gahl William A.,Boerkoel Cornelius F.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. A map of human genome variation from population-scale sequencing;Altshuler;Nature,2010

3. Accurate whole human genome sequencing using reversible terminator chemistry;Bentley;Nature,2008

4. Galaxy: A web-based genome analysis tool for experimentalists;Blankenberg;Curr Protoc Mol Biol,2010

5. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion;den Dunnen;Hum Mutat,2000

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