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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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Podrobná bibliografie
Vydáno v:Cancer Cytopathol
Hlavní autor: Dumur, Catherine I
Médium: Artigo
Jazyk:Inglês
Vydáno: BlackWell Publishing Ltd 2014
Témata:
On-line přístup: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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