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

Tom Kamphans | Zendy; Peter Krawitz | Zendy

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

Author(s) -

Tom Kamphans,

Peter Krawitz

Publication year - 2012

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts462

Subject(s) - context (archaeology) , geneticist , sequence (biology) , login , personal genomics , exome , exome sequencing , computer science , computational biology , dna sequencing , whole genome sequencing , world wide web , genome , genetics , biology , gene , mutation , computer network , paleontology

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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