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Article

Visual Detection and Stratification of Pathogenic mtDNA SNV Heteroplasmy by Balancing FnCas12a Signal Output and Allelic Discrimination.

Analytical chemistry - 25 Aug 2026

Yang ShaoYu, Shen Yu, Zhikang Zhang, Liu LeYao, Han Yizhen, Chen Xiangyu, Bao HongYu, Ji Dongmei, Peng Pai, Du Yi

Abstract excerpt

Assessment of pathogenic mitochondrial DNA (mtDNA) single-nucleotide variant (SNV) heteroplasmy is important for molecular diagnostics, yet rapid visual profiling remains analytically challenging because an assay must combine single-nucleotide allelic discrimination, mutant-fraction-associated readout, and suitable target access. Herein, we report VISTA (visual identification and stratification of targeted mtDNA...

Read the complete abstract on PubMed

Topics

DNA, Mitochondrial
Alleles
Polymorphism, Single Nucleotide
Heteroplasmy
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42674057
DOI: 10.1021/acs.analchem.6c04072

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PAM
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