Robust SNP genotyping by multiplex PCR and arrayed primer extension.

ABSTRACT:

Background

Arrayed primer extension (APEX) is a microarray-based rapid minisequencing methodology that may have utility in 'personalized medicine' applications that involve genetic diagnostics of single nucleotide polymorphisms (SNPs). However, to date there have been few reports that objectively evaluate the assay completion rate, call rate and accuracy of APEX. We have further developed robust assay design, chemistry and analysis methodologies, and have sought to determine how effective APEX is in comparison to leading 'gold-standard' genotyping platforms. Our methods have been tested against industry-leading technologies in two blinded experiments based on Coriell DNA samples and SNP genotype data from the International HapMap Project.

Results

In the first experiment, we

SUBMITTER: Podder M 

PROVIDER: S-EPMC2266772 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature