Enrichment Strategies for Low-Abundant Single Nucleotide Mutations.

Autor: Guo C; Key Laboratory of Green Chemistry and Technology of Ministry of Education, College of Chemistry, Sichuan University, Chengdu, Sichuan, 610064, China., Ding R; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, 610064, China., Zhao Z; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, 610064, China., Guo J; Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, 610064, China., Li F; Key Laboratory of Green Chemistry and Technology of Ministry of Education, College of Chemistry, Sichuan University, Chengdu, Sichuan, 610064, China.
Jazyk: angličtina
Zdroj: Chemistry (Weinheim an der Bergstrasse, Germany) [Chemistry] 2024 Oct 24, pp. e202402872. Date of Electronic Publication: 2024 Oct 24.
DOI: 10.1002/chem.202402872
Abstrakt: Over the past three decades, significant advancements have been made in mutation enrichment methods, driven by the increasing need for precise and efficient identification of rare genetic variants associated with diseases. Mutation-enrichment methods have emerged to boost sensitivity and enable easy detection of low-frequency mutations. These methods are crucial in genomics research and clinical diagnostics, allowing for the detection of low-frequency mutations within large genomic datasets. This review presents a summary of technological developments in rare mutation enrichment and emphasizes their mechanisms and applications in liquid biopsies.
(© 2024 Wiley-VCH GmbH.)
Databáze: MEDLINE
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