Article

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

2023-04-30

Abstract excerpt

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 made a comprehensive evaluation of the performance of multiple variant calling pipelines, showing that state-of-the-art neural network-based methods show the best accuracy o...

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Literature Corpus work: 04da8101-3e11-5f99-93e3-34a130b5fbd0
DOI: 10.1101/2023.04.28.538608

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