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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...

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Detalhes bibliográficos
Main Authors: Kamphans, Tom, Krawitz, Peter M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463119/
https://ncbi.nlm.nih.gov/pubmed/22826540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts462
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