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Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.

Genetic testing and molecular biomarkers - 1 Oct 2013

Klugman Susan, Schreiber-Agus Nicole, Nazareth Shivani, Evans Eric A

Abstract excerpt

BACKGROUND: High-throughput genotyping allows rapid identification of targeted mutations at a fraction of the cost of current gene-by-gene testing methodologies. An objective comparison of the two methodologies allows providers to assess the clinical validity/utility of high-throughput carrier screening and establish a comfort level with new genomic technologies. AIM: To verify that high-throughput genotyping...

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Genetic Diseases, Inborn
Genotype
High-Throughput Nucleotide Sequencing
Jews
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23952016
DOI: 10.1089/gtmb.2013.0105

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