Evaluation of the effects of 18 non-synonymous single-nucleotide polymorphisms of CYP450 2C19 onin vitrodrug inhibition potential by a fluorescence-based high-throughput assay

Abstract Background: We have developed a novel, microsphere-based universal array platform referred to as the Tag-It™ platform. This platform is suitable for high-throughput clinical genotyping applications and was used for multiplex analysis of a panel of thrombophilia-associated single-nucleotide polymorphisms (SNPs). Methods: Genomic DNA from 132 patients was amplified by multiplex PCR using 6 primer sets, followed by multiplex allele-specific primer extension using 12 universally tagged genotyping primers. The products were then sorted on the Tag-It array and detected by use of the Luminex xMAP™ system. Genotypes were also determined by sequencing. Results: Empirical validation of the universal array showed that the highest nonspecific signal was 3.7% of the specific signal. Patient genotypes showed 100% concordance with direct DNA sequencing data for 736 SNP determinations. Conclusions: The Tag-It microsphere-based universal array platform is a highly accurate, multiplexed, high-throughput SNP-detection platform.

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Pyrosequencing, a High-Throughput Method for Detecting Single Nucleotide Polymorphisms in the Dihydrofolate Reductase and Dihydropteroate Synthetase Genes of Plasmodium falciparum

Journal of Clinical Microbiology ◽

10.1128/jcm.01209-06 ◽

2006 ◽

Vol 44 (11) ◽

pp. 3900-3910 ◽

Cited By ~ 37

Author(s):

Z. Zhou ◽

A. C. Poe ◽

J. Limor ◽

K. K. Grady ◽

I. Goldman ◽

...

Keyword(s):

Plasmodium Falciparum ◽

Single Nucleotide Polymorphisms ◽

High Throughput ◽

Dihydrofolate Reductase ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

High Throughput Method

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11 Million SNP Reference Profiles for Identity Searching Across Ethnicities, Kinship, and Admixture

10.1101/321190 ◽

2018 ◽

Author(s):

Brian S. Helfer ◽

Darrell O. Ricke

Keyword(s):

Single Nucleotide Polymorphisms ◽

High Throughput ◽

Family Relationships ◽

In Silico ◽

High Throughput Sequencing ◽

Genetic Data ◽

Nucleotide Polymorphisms ◽

Mixture Analysis ◽

Single Nucleotide ◽

Public Repositories

AbstractHigh throughput sequencing (HTS) of single nucleotide polymorphisms (SNPs) provides additional applications for DNA forensics including identification, mixture analysis, kinship prediction, and biogeographic ancestry prediction. Public repositories of human genetic data are being rapidly generated and released, but the majorities of these samples are de-identified to protect privacy, and have little or no individual metadata such as appearance (photos), ethnicity, relatives, etc. A reference in silico dataset has been generated to enable development and testing of new DNA forensics algorithms. This dataset provides 11 million SNP profiles for individuals with defined ethnicities and family relationships spanning eight generations with admixture for a panel with 39,108 SNPs.

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