2004
DOI: 10.1016/j.jbbm.2003.11.005
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A comparison between SNaPshot, pyrosequencing, and biplex invader SNP genotyping methods: accuracy, cost, and throughput

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Cited by 63 publications
(40 citation statements)
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“…Samples with high missing genotype call rate (44%, n ¼ 401), high heterozygosity (430%, n ¼ 11) and gender inconsistencies (n ¼ 41), and those obtained from individuals who had developed any kind of cancer (n ¼ 101) were excluded from subsequent analyses along with related or identical individuals whose computed average pairwise identity-by-state (IBS) value was higher than that estimated from first-degree relatives of Korean sibpair samples (40.80, n ¼ 601). Samples whose genotype-inferred sex disagreed with clinical records were re-tested for sex confirmation using the SNaPshot Multiplex System (Applied Biosystems) 24 . The methods to estimate heterozygosity and IBS have been described elsewhere 3 .…”
Section: Methodsmentioning
confidence: 99%
“…Samples with high missing genotype call rate (44%, n ¼ 401), high heterozygosity (430%, n ¼ 11) and gender inconsistencies (n ¼ 41), and those obtained from individuals who had developed any kind of cancer (n ¼ 101) were excluded from subsequent analyses along with related or identical individuals whose computed average pairwise identity-by-state (IBS) value was higher than that estimated from first-degree relatives of Korean sibpair samples (40.80, n ¼ 601). Samples whose genotype-inferred sex disagreed with clinical records were re-tested for sex confirmation using the SNaPshot Multiplex System (Applied Biosystems) 24 . The methods to estimate heterozygosity and IBS have been described elsewhere 3 .…”
Section: Methodsmentioning
confidence: 99%
“…False negative results can occur due to sparse amount of tumor tissue below the detection limit. Incorrectly detected genotypes are rare (<1%) with this method which produces rarely (<2%) different genotypes in separate runs (41). The method has numerous advantages; it is fast, sensitive-tolerating a mix of normal and small quantities of tumor tissue, and can be assessed on routine paraffin sections evading the need for frozen tumor specimens and microdissection.…”
Section: Pik3ca Mutation Detection Methodologymentioning
confidence: 99%
“…Here, we describe a method which is both precise and relatively cost-effective, based on the SNaPshot assay (Pati et al 2004). Our aim was to apply this assay to a range of Czech spring malting barleys to track relevant allele frequencies over time in the local malting barley breeding genepool.…”
Section: Introductionmentioning
confidence: 99%