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GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.

SUMMARY: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant. AVAILABILITY: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account. CONTACT: peter.krawitz@gene-talk.de.

Pubmed ID: 22826540

Authors

  • Kamphans T
  • Krawitz PM

Journal

Bioinformatics (Oxford, England)

Publication Data

October 1, 2012

Associated Grants

None

Mesh Terms

  • Computational Biology
  • Exome
  • Genome, Human
  • Humans
  • Individualized Medicine
  • Information Dissemination
  • Internet
  • Knowledge Management
  • Molecular Sequence Annotation
  • Polymorphism, Genetic
  • Sequence Analysis, DNA
  • Software
  • User-Computer Interface