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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Manojkumar Kumaran, Umadevi Subramanian, Bharanidharan Devarajan
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Bioinformatics
Subjects:
Whole exome sequencing
Simulated exome data
Human reference genome
Variant calling pipelines
SNVs and InDels
Online Access:http://link.springer.com/article/10.1186/s12859-019-2928-9

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