Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

BACKGROUND: Whole exome sequencing (WES) is a cost-effective method that identifies clinical variants but it demands accurate variant caller tools. Currently available tools have variable accuracy in predicting specific clinical variants. But it may be possible to find the best combination of aligne...

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Detalles Bibliográficos
Autores principales: Kumaran, Manojkumar, Subramanian, Umadevi, Devarajan, Bharanidharan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580603/
https://www.ncbi.nlm.nih.gov/pubmed/31208315
http://dx.doi.org/10.1186/s12859-019-2928-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580603/
https://www.ncbi.nlm.nih.gov/pubmed/31208315
http://dx.doi.org/10.1186/s12859-019-2928-9

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