Journal
BIOINFORMATICS
Volume 28, Issue 19, Pages 2515-2516Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/bts462
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Funding
- Deutsche Forschungsgemeinschaft [DFG KR 3985/1-1]
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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.
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