Conflicting results in SNP genotype assessment
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Conflicting results in SNP genotype assessment. / Hansen, Lise Lotte; Madsen, Bo Eskerod; Pedersen, Kristina; Wiuf, Carsten.
I: BioTechniques, Bind 43, Nr. 6, 01.12.2007, s. 756-762.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Conflicting results in SNP genotype assessment
AU - Hansen, Lise Lotte
AU - Madsen, Bo Eskerod
AU - Pedersen, Kristina
AU - Wiuf, Carsten
PY - 2007/12/1
Y1 - 2007/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=37349077842&partnerID=8YFLogxK
U2 - 10.2144/000112675
DO - 10.2144/000112675
M3 - Journal article
C2 - 18251251
AN - SCOPUS:37349077842
VL - 43
SP - 756
EP - 762
JO - BioTechniques
JF - BioTechniques
SN - 0736-6205
IS - 6
ER -
ID: 203900563