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

Manojkumar KumaranUmadevi SubramanianBharanidharan Devarajan
Published in: BMC bioinformatics (2019)
In this study, DeepVariant with BWA and Novoalign performed best for detecting accurate SNVs and InDels. The accuracy of variant calling was improved by merging the top performing pipelines. The results of our study provide useful recommendations for analysis of WES data in clinical genomics.
Keyphrases
  • endothelial cells
  • electronic health record
  • mass spectrometry
  • clinical practice
  • deep learning