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BioTechniques
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Conflicting Results in SNP Genotype Assessment

Authors: Hansen, Lise Lotte; Madsen, Bo Eskerod; Pedersen, Kristina; Wiuf, Carsten;

Conflicting Results in SNP Genotype Assessment

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.

Related Organizations
Keywords

Base Sequence, Genotype, QH301-705.5, Genetic Linkage, Molecular Sequence Data, Reproducibility of Results, Breast Neoplasms, Polymorphism, Single Nucleotide, Humans, Female, Genetic Testing, Reagent Kits, Diagnostic, Biology (General), DNA Primers

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
gold