GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
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DOI：
10.1093/bioinformatics/bts462
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发表时间：
2012-10-01
期刊：
影响因子：
--
通讯作者：
Krawitz PM
中科院分区：
文献类型：
--
作者：
Kamphans T;Krawitz PM
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
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