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A new tool for prioritization of sequence variants from whole exome sequencing data

BACKGROUND: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide important insights into disease mechanisms. In developing countries, bioi...

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Detalhes bibliográficos
Publicado no:Source Code Biol Med
Main Authors: Glanzmann, Brigitte, Herbst, Hendri, Kinnear, Craig J., Möller, Marlo, Gamieldien, Junaid, Bardien, Soraya
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929716/
https://ncbi.nlm.nih.gov/pubmed/27375772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13029-016-0056-8
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