Utility and accuracy of template-directed dye-terminator incorporation with fluorescence-polarization detection for genotyping single nucleotide polymorphisms

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 fluores...

Ausführliche Beschreibung

Bibliographische Detailangaben
Veröffentlicht in:BioTechniques. - 1993. - 32(2002), 5 vom: 04. Mai, Seite 1072-6, 1078
1. Verfasser: Akula, N (VerfasserIn)
Weitere Verfasser: Chen, Y S, Hennessy, K, Schulze, T G, Singh, G, McMahon, F J
Format: Aufsatz
Sprache:English
Veröffentlicht: 2002
Zugriff auf das übergeordnete Werk:BioTechniques
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.
LEADER 01000caa a22002652 4500
001 NLM118954598
003 DE-627
005 20250203065340.0
007 tu
008 231222s2002 xx ||||| 00| ||eng c
028 5 2 |a pubmed25n0397.xml 
035 |a (DE-627)NLM118954598 
035 |a (NLM)12019780 
040 |a DE-627  |b ger  |c DE-627  |e rakwb 
041 |a eng 
100 1 |a Akula, N  |e verfasserin  |4 aut 
245 1 0 |a Utility and accuracy of template-directed dye-terminator incorporation with fluorescence-polarization detection for genotyping single nucleotide polymorphisms 
264 1 |c 2002 
336 |a Text  |b txt  |2 rdacontent 
337 |a ohne Hilfsmittel zu benutzen  |b n  |2 rdamedia 
338 |a Band  |b nc  |2 rdacarrier 
500 |a Date Completed 20.11.2002 
500 |a Date Revised 28.09.2018 
500 |a published: Print 
500 |a Citation Status MEDLINE 
520 |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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a Research Support, U.S. Gov't, P.H.S. 
700 1 |a Chen, Y S  |e verfasserin  |4 aut 
700 1 |a Hennessy, K  |e verfasserin  |4 aut 
700 1 |a Schulze, T G  |e verfasserin  |4 aut 
700 1 |a Singh, G  |e verfasserin  |4 aut 
700 1 |a McMahon, F J  |e verfasserin  |4 aut 
773 0 8 |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 
773 1 8 |g volume:32  |g year:2002  |g number:5  |g day:04  |g month:05  |g pages:1072-6, 1078 
912 |a GBV_USEFLAG_A 
912 |a SYSFLAG_A 
912 |a GBV_NLM 
912 |a GBV_ILN_21 
912 |a GBV_ILN_22 
912 |a GBV_ILN_39 
912 |a GBV_ILN_40 
912 |a GBV_ILN_50 
912 |a GBV_ILN_60 
912 |a GBV_ILN_62 
912 |a GBV_ILN_65 
912 |a GBV_ILN_70 
912 |a GBV_ILN_99 
912 |a GBV_ILN_121 
912 |a GBV_ILN_130 
912 |a GBV_ILN_227 
912 |a GBV_ILN_350 
912 |a GBV_ILN_618 
912 |a GBV_ILN_640 
912 |a GBV_ILN_754 
912 |a GBV_ILN_2001 
912 |a GBV_ILN_2002 
912 |a GBV_ILN_2003 
912 |a GBV_ILN_2005 
912 |a GBV_ILN_2006 
912 |a GBV_ILN_2007 
912 |a GBV_ILN_2008 
912 |a GBV_ILN_2009 
912 |a GBV_ILN_2010 
912 |a GBV_ILN_2012 
912 |a GBV_ILN_2015 
912 |a GBV_ILN_2018 
912 |a GBV_ILN_2023 
912 |a GBV_ILN_2035 
912 |a GBV_ILN_2040 
912 |a GBV_ILN_2060 
912 |a GBV_ILN_2099 
912 |a GBV_ILN_2105 
912 |a GBV_ILN_2121 
912 |a GBV_ILN_2470 
951 |a AR 
952 |d 32  |j 2002  |e 5  |b 04  |c 05  |h 1072-6, 1078