Benchmarking UMI clustering tools for accurate detection of low-frequency variants from deep sequencing

Abstract Accurate detection of low-frequency variants utilizing next-generation sequencing (NGS) is of paramount importance in both biomedical research and clinical diagnosis. However, its analytical sensitivity is impeded by NGS’s inherently high error rates. An efficient solution employs unique mo...

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Principais autores:	Dan Pu, Jie Li, Jiagen Li, Senbiao Qin, Xinyu Qiu, Ziqi Wang, Kunxian Shu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2025-12-01
coleção:	Scientific Reports
Assuntos:	Next-generation sequencing Low-frequency variant Unique molecular identifier (UMI) clustering Variant calling
Acesso em linha:	https://doi.org/10.1038/s41598-025-33128-x
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