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Available resources and challenges for the clinical annotation of somatic variations

Next-generation sequencing (NGS) has become an important tool for identifying clinically relevant variants in both inherited disorders and oncology. Variants annotation that enables the creation of meaningful clinical reports often requires mining multiple publicly available databases. There are a n...

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Detalhes bibliográficos
Publicado no:Cancer Cytopathol
Autor principal: Dumur, Catherine I
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231254/
https://ncbi.nlm.nih.gov/pubmed/25111663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cncy.21471
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