Conflicting Results in SNP Genotype Assessment | Zendy

Lise Lotte Hansen | Zendy; Bo Eskerod Madsen | Zendy; Kristina Pedersen | Zendy; Carsten Wiuf | Zendy

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Conflicting Results in SNP Genotype Assessment

Author(s) -

Lise Lotte Hansen,

Bo Eskerod Madsen,

Kristina Pedersen,

Carsten Wiuf

Publication year - 2007

Publication title -

biotechniques

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.617

H-Index - 131

eISSN - 1940-9818

pISSN - 0736-6205

DOI - 10.2144/000112675

Subject(s) - genetics , snp , single nucleotide polymorphism , biology , genotype , tag snp , dna sequencing , population , primer (cosmetics) , linkage (software) , genome , snp genotyping , computational biology , gene , medicine , chemistry , environmental health , organic chemistry

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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