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Universal Targeted Haplotyping by Droplet Digital PCR Sequencing and Its Applications in Noninvasive Prenatal Testing and Pharmacogenetics Analysis.

Clinical chemistry - 1 Aug 2024

Gai Wanxia, Wang Guangya, Lam W K Jacky, Yuen Liz Y P, Jiang Peiyong, Yu Stephanie C Y, Leung Tak Y, Lau So Ling, Lo Y M Dennis, Chan K C Allen

Abstract excerpt

BACKGROUND: The analysis of haplotypes of variants is important for pharmacogenomics analysis and noninvasive prenatal testing for monogenic diseases. However, there is a lack of robust methods for targeted haplotyping. METHODS: We developed digital PCR haplotype sequencing (dHapSeq) for targeted haplotyping of variants, which is a method that compartmentalizes long DNA molecules into droplets. Within one...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38873917
DOI: 10.1093/clinchem/hvae076

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