The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

Recent advances in next‐generation sequencing (NGS) have given rise to new challenges due to the difficulties in variant pathogenicity interpretation and large dataset management, including many kinds of public population databases as well as public or commercial disease‐specific databases. Here, we...

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Detalles Bibliográficos
Autores principales: Nishio, Shin‐ya, Usami, Shin‐ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324660/
https://www.ncbi.nlm.nih.gov/pubmed/28008688
http://dx.doi.org/10.1002/humu.23160

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324660/
https://www.ncbi.nlm.nih.gov/pubmed/28008688
http://dx.doi.org/10.1002/humu.23160

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