Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Jun 1;35(11):1978-1980.
doi: 10.1093/bioinformatics/bty897.

VarSome: the human genomic variant search engine

Christos Kopanos  1 , Vasilis Tsiolkas  1 , Alexandros Kouris  1 , Charles E Chapple  1 , Monica Albarca Aguilera  1 , Richard Meyer  1 , Andreas Massouras  1
Affiliations

VarSome: the human genomic variant search engine

Christos Kopanos et al. Bioinformatics. .

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.

PubMed Disclaimer

Figures

Fig. 1.
Fig. 1.
VarSome genome browser. (A) Sequence (zooming in shows individual base pairs) and position. (B) Transcripts’ exonic structure and orientation. (C) Regions of interest in the protein (binding sites, functional domains, etc.) taken from UniProt. (D) Lollipop graphs indicating the pathogenicity of known variants in the region. (E) Known variants in the region
See this image and copyright information in PMC

References

    1. Dunnen J.T. et al. (2016) Hgvs recommendations for the description of sequence variants: 2016 update. Hum. Mutat., 37, 564–569. - PubMed
    1. Freeman P.J. et al. (2018) Variantvalidator: accurate validation, mapping, and formatting of sequence variation descriptions. Hum Mutat., 39, 61–68. - PMC - PubMed
    1. Glusman G. et al. (2011) Kaviar: an accessible system for testing snv novelty. Bioinformatics, 27, 3216–3217. - PMC - PubMed
    1. Hudson T.J. et al. (2010) International network of cancer genome projects. Nature, 464, 993–998. - PMC - PubMed
    1. Köhler S. et al. (2017) The human phenotype ontology in 2017. Nucleic Acids Res., 45, D865–D876. - PMC - PubMed