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231222s2002 xx ||||| 00| ||eng c |
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|a pubmed25n0397.xml
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|a (NLM)12019780
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|a DE-627
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|e rakwb
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|a eng
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1 |
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|a Akula, N
|e verfasserin
|4 aut
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1 |
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|a Utility and accuracy of template-directed dye-terminator incorporation with fluorescence-polarization detection for genotyping single nucleotide polymorphisms
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|c 2002
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|a Text
|b txt
|2 rdacontent
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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|b nc
|2 rdacarrier
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|a Date Completed 20.11.2002
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|a Date Revised 28.09.2018
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|a published: Print
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|a Citation Status MEDLINE
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|a There are little independent data available about how well single nucleotide polymorphism (SNP) genotyping technologies perform in the typical molecular genetics laboratory. We evaluated the utility and accuracy of a widely used technology, template-directed dye-terminator incorporation with fluorescence-polarization detection (FP-TDI), in a sample of 177 SNPs selected solely on the basis of map location. Genotypes were generated without optimization using standard protocols. Overall, 81% of the SNPs we studied generated readable genotypes by FP-TDI. Thirty-two SNPs were genotyped in duplicate by PCR-RFLP orfluorescent dye-terminator sequencing. Out of a total of 631 duplicate genotypes, no true discrepancies were detected. The true error rate has a 95% chance of lying between 0 and 6 out of 1000 genotypes. We also tested for deviations from Hardy-Weinberg Equilibrium in 33 SNPs genotyped in 50 unrelated individuals, and no significant deviations were detected. Our FP-TDI data were readily adaptable to automated genotype calling using our own method of cluster analysis, which assigns a probability score to each genotype call. We conclude that FP-TDI is both efficient and accurate. The method can easily fill the needs of SNP genotyping projects at the scale typically used for regional or candidate-gene association studies
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|a Journal Article
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4 |
|a Research Support, Non-U.S. Gov't
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650 |
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4 |
|a Research Support, U.S. Gov't, P.H.S.
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700 |
1 |
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|a Chen, Y S
|e verfasserin
|4 aut
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700 |
1 |
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|a Hennessy, K
|e verfasserin
|4 aut
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700 |
1 |
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|a Schulze, T G
|e verfasserin
|4 aut
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700 |
1 |
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|a Singh, G
|e verfasserin
|4 aut
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700 |
1 |
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|a McMahon, F J
|e verfasserin
|4 aut
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773 |
0 |
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|i Enthalten in
|t BioTechniques
|d 1993
|g 32(2002), 5 vom: 04. Mai, Seite 1072-6, 1078
|w (DE-627)NLM012627046
|x 0736-6205
|7 nnns
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773 |
1 |
8 |
|g volume:32
|g year:2002
|g number:5
|g day:04
|g month:05
|g pages:1072-6, 1078
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