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VarSome: the human genomic variant search engine.

Christos Kopanos1, Vasilis Tsiolkas1, Alexandros Kouris1

  • 1Saphetor S.A., EPFL Innovation Park - C, Lausanne, Switzerland.

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Summary
This summary is machine-generated.

VarSome is a free online tool that aggregates and analyzes human genetic variations. It facilitates global expertise sharing on genetic variants to advance research.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Human genetic variation data is vast and complex.
  • Efficient tools are needed for analyzing and interpreting genetic variants.
  • Community collaboration is crucial for advancing genetic research.

Purpose of the Study:

  • To introduce VarSome, a comprehensive tool for human genetic variation analysis.
  • To provide a platform for aggregating and analyzing genetic variant data.
  • To foster a community for sharing expertise on human variants.

Main Methods:

  • Development of a search engine and aggregator for human genetic variations.
  • Implementation of an impact analysis tool for genetic variants.
  • Establishment of a community-driven platform for knowledge sharing.

Main Results:

  • VarSome provides a centralized resource for human genetic variation data.
  • The tool facilitates the analysis of variant impact and interpretation.
  • A community is being built around the platform for collaborative research.

Conclusions:

  • VarSome serves as a valuable, freely accessible resource for genetic researchers.
  • The platform enhances the analysis and understanding of human genetic variations.
  • Community engagement through VarSome promotes global expertise sharing in genetics.