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Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

2021-04-14

Abstract excerpt

Accurate variant detection in the coding regions of the human genome is a key requirement for molecular diagnostics of Mendelian disorders. Efficiency of variant discovery from nextgeneration sequencing (NGS) data depends on multiple factors, including reproducible coverage biases of NGS methods and the performance of read alignment and variant calling software. In this work, we systematically evaluated the perfor...

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Literature Corpus work: 76c5b738-9664-5c14-9d4e-fd056f8d2b34
DOI: 10.1101/2021.04.13.439626

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