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Updated: Feb 11, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Single Color Multiplexed ddPCR Copy Number Measurements and Single Nucleotide Variant Genotyping
Christina M Wood-Bouwens1,2, Hanlee P Ji3,4
1Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Abstract:
Droplet digital PCR (ddPCR) allows for accurate quantification of genetic events such as copy number variation and single nucleotide variants. Probe-based assays represent the current "gold-standard" for detection and quantification of these genetic events. Here, we introduce a cost-effective single color ddPCR assay that allows for single genome resolution quantification of copy number and single nucleotide variation.
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