Article

Negligible effects of read trimming on the accuracy of germline short variant calling in the human genome

2024-05-17

Abstract excerpt

<h4>Background: </h4> Next generation sequencing (NGS) has become a standard tool in the molecular diagnostics of Mendelian disease, and the precision of such diagnostics is greatly affected by the accuracy of variant calling from sequencing data. Recently, we have comprehensively evaluated the performance of multiple variant calling pipelines. However, no systematic analysis of the effects of read trimming on var...

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Literature Corpus work: d31e9665-5f2e-594c-ab5d-71ff1e6e6575
DOI: 10.12688/f1000research.145486.1

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