ClinVar: improving access to variant interpretations and supporting evidence-Reference-Cited by-同舟云学术

ClinVar: improving access to variant interpretations and supporting evidence

Published:2017-11-20 Issue:D1 Volume:46 Page:D1062-D1067
ISSN:0305-1048
Container-title:Nucleic Acids Research
language:en
Short-container-title:

Author:

Landrum Melissa J,Lee Jennifer M,Benson Mark,Brown Garth R,Chao Chen,Chitipiralla Shanmuga,Gu Baoshan,Hart Jennifer,Hoffman Douglas,Jang Wonhee,Karapetyan Karen,Katz Kenneth,Liu Chunlei,Maddipatla Zenith,Malheiro Adriana,McDaniel Kurt,Ovetsky Michael,Riley George,Zhou George,Holmes J Bradley,Kattman Brandi L,Maglott Donna R

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

http://academic.oup.com/nar/article-pdf/46/D1/D1062/23162472/gkx1153.pdf

Reference12 articles.

1. ClinVar: public archive of relationships among sequence variation and human phenotype;Nucleic Acids Res.,2014

2. ClinVar: public archive of interpretations of clinically relevant variants;Nucleic Acids Res.,2016

3. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;Hum. Mutat.,2000

4. The variant call format and VCFtools;Bioinformatics,2011

5. Database resources of the National Center for Biotechnology Information;NCBI Resource Coordinators;Nucleic Acids Res.,2016

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