Article

UMI-Gen: a UMI-based reads simulator for variant calling evaluation in paired-end sequencing NGS libraries

2020-04-23

Abstract excerpt

<h4>Motivation</h4> With Next Generation Sequencing becoming more affordable every year, NGS technologies asserted themselves as the fastest and most reliable way to detect Single Nucleotide Variants (SNV) and Copy Number Variations (CNV) in cancer patients. These technologies can be used to sequence DNA at very high depths thus allowing to detect abnormalities in tumor cells with very low frequencies. A lot of d...

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Literature Corpus work: da77b4f4-1cb5-5485-87f1-cffd0d9a0fb4
DOI: 10.1101/2020.04.22.027532

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