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Article

High-throughput carrier screening using TaqMan allelic discrimination.

PloS one - 1 Jan 2013

Fedick Anastasia, Su Jing, Jalas Chaim, Northrop Lesley, Devkota Batsal, Ekstein Josef, Treff Nathan R

Abstract excerpt

Members of the Ashkenazi Jewish community are at an increased risk for inheritance of numerous genetic diseases such that carrier screening is medically recommended. This paper describes the development and evaluation of 30 TaqMan allelic discrimination qPCR assays for 29 mutations on 2 different high-throughput platforms. Four of these mutations are in the GBA gene and are successfully examined using short...

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Share to Alleles
Share to DNA Mutational Analysis
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Polymerase Chain Reaction

Share to Polymorphism, Single Nucleotide

Share to Reproducibility of Results

Source

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Identifiers

PMID: 23555759
DOI: 10.1371/journal.pone.0059722
PMCID: PMC3608587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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