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- Title
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
- Authors
Kamphans, Tom; Krawitz, Peter M
- Abstract
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.
- Publication
Bioinformatics (Oxford, England), 2012, Vol 28, Issue 19, p2515
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/bts462