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VarSome: the Human Genomic Variant Search Engine

Overview
Journal Bioinformatics
Specialty Biology
Date 2018 Oct 31
PMID 30376034
Citations 862
Authors
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Abstract

Summary: VarSome.com is a search engine, aggregator and impact analysis tool for human genetic variation and a community-driven project aiming at sharing global expertise on human variants.

Availability And Implementation: VarSome is freely available at http://varsome.com.

Supplementary Information: Supplementary data are available at Bioinformatics online.

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References
1.
Artez A, Bernabe R, Eerola I, Hemsley F, Jennings J, Kerr D . International network of cancer genome projects. Nature. 2010; 464(7291):993-8. PMC: 2902243. DOI: 10.1038/nature08987. View

2.
Glusman G, Caballero J, Mauldin D, Hood L, Roach J . Kaviar: an accessible system for testing SNV novelty. Bioinformatics. 2011; 27(22):3216-7. PMC: 3208392. DOI: 10.1093/bioinformatics/btr540. View

3.
Solomon B, Nguyen A, Bear K, Wolfsberg T . Clinical genomic database. Proc Natl Acad Sci U S A. 2013; 110(24):9851-5. PMC: 3683745. DOI: 10.1073/pnas.1302575110. View

4.
Quang D, Chen Y, Xie X . DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2014; 31(5):761-3. PMC: 4341060. DOI: 10.1093/bioinformatics/btu703. View

5.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View