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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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Detalles Bibliográficos
Autores principales: Kamphans, Tom, Krawitz, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119/
https://www.ncbi.nlm.nih.gov/pubmed/22826540
http://dx.doi.org/10.1093/bioinformatics/bts462

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