Article

Performance Assessment of Variant Calling Pipelines using Human Whole Exome Sequencing and Simulated data

2018-06-29

Abstract excerpt

The whole exome sequencing (WES) is a time-consuming technology in the identification of clinical variants and it demands the accurate variant caller tools. The currently available tools compromise accuracy in predicting the specific types of variants. Thus, it is important to find out the possible combination of best aligner-variant caller tools for detecting SNVs and InDels separately. Moreover, many important a...

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Literature Corpus work: beea6116-2b7f-519b-a814-1c2e383dadce
DOI: 10.1101/359109

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