Performance comparison of SNP detection tools with illumina exome sequencing data—an assessment using both family pedigree information and sample-matched SNP array data

To apply exome-seq-derived variants in the clinical setting, there is an urgent need to identify the best variant caller(s) from a large collection of available options. We have used an Illumina exome-seq dataset as a benchmark, with two validation scenarios—family pedigree information and SNP array...

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Detalles Bibliográficos
Autores principales: Yi, Ming, Zhao, Yongmei, Jia, Li, He, Mei, Kebebew, Electron, Stephens, Robert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081058/
https://www.ncbi.nlm.nih.gov/pubmed/24831545
http://dx.doi.org/10.1093/nar/gku392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081058/
https://www.ncbi.nlm.nih.gov/pubmed/24831545
http://dx.doi.org/10.1093/nar/gku392

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