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Updated: Jul 7, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Conflicting results in SNP genotype assessment
Lise Lotte Hansen1, Bo Eskerod Madsen, Kristina Pedersen
1Danish Centre for Molecular Gerontology, Institute of Human Genetics, University of Aarhus, Denmark. lotte@humgen.au.dk
Abstract:
Single nucleotide polymorphisms (SNPs) are highly abundant in the genome and especially useful in the search for disease susceptibility genes via population-based association or linkage studies. Therefore, there is a strong need for high throughput and reliable methodologies to assess the SNP genotypes. Despite an unambiguous result of an SNP analysis, with the use of a commercial kit based on primer extension, subsequent sequencing analysis revealed that a proportion of the genotypes was not correctly assessed. The problem we have encountered may originate from specific structures in the genomic DNA sequence, rather than being a methodological problem.
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