ArticlePloS one2013
High-throughput carrier screening using TaqMan allelic discrimination.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.Frontiers in oncology · 2023Article
- BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.Molecular biology reports · 2022Article
- Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.Journal of personalized medicine · 2022Article
- The Genetic and Molecular Analyses ofCancers · 2022Article
- Development of a TaqManFrontiers in genetics · 2022Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
- Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.Pediatric neurology · 2021Article
- A founder deletion in theHuman genome variation · 2019Article
- Article
- A comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy.Scientific reports · 2015Article
- Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Molecular genetics & genomic medicine · 2015Article
- CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping.Frontiers in pharmacology · 2015Article
- Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.Journal of assisted reproduction and genetics · 2014Article
- Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.PloS one · 2014Article
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Authors and funding
7 authors.
Funding
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Abstract
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 amplicons due to the qualitative nature of TaqMan allelic discrimination. Two systems were tested for their reliability (call rate) and consistency with previous diagnoses (diagnostic accuracy) indicating a call rate of 99.04% and a diagnostic accuracy of 100% (+/-0.00%) from one platform, and a call rate of 94.66% and a diagnostic accuracy of 93.35% (+/-0.29%) from a second for 9,216 genotypes. Results for mutations tested at the expected carrier frequency indicated a call rate of 97.87% and a diagnostic accuracy of 99.96% (+/-0.05%). This study demonstrated the ability of a high throughput qPCR methodology to accurately and reliably genotype 29 mutations in parallel. The universally applicable nature of this technology provides an opportunity to increase the number of mutations that can be screened simultaneously, and reduce the cost and turnaround time for accommodating newly identified and clinically relevant mutations.
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