Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

With exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing need for platform-independent methods of quality control. We present a genotype-weighted metric that allows comparison of all the variant calls of an exome to a high-quality reference dataset o...

Descripción completa

Detalles Bibliográficos
Autores principales: Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978951/
https://www.ncbi.nlm.nih.gov/pubmed/23902830
http://dx.doi.org/10.1186/gm473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978951/
https://www.ncbi.nlm.nih.gov/pubmed/23902830
http://dx.doi.org/10.1186/gm473

Ejemplares similares