Using population data for assessing next-generation sequencing performance

Motivation: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their output. This requires approaches to assess the...

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Detalles Bibliográficos
Autores principales: Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271148/
https://www.ncbi.nlm.nih.gov/pubmed/25236458
http://dx.doi.org/10.1093/bioinformatics/btu606

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271148/
https://www.ncbi.nlm.nih.gov/pubmed/25236458
http://dx.doi.org/10.1093/bioinformatics/btu606

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