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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Detalles Bibliográficos
Autores principales: Glanzmann, Brigitte, Herbst, Hendri, Kinnear, Craig J., Möller, Marlo, Gamieldien, Junaid, Bardien, Soraya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929716/
https://www.ncbi.nlm.nih.gov/pubmed/27375772
http://dx.doi.org/10.1186/s13029-016-0056-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929716/
https://www.ncbi.nlm.nih.gov/pubmed/27375772
http://dx.doi.org/10.1186/s13029-016-0056-8

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