SNPman: a program for genotype calling using run data from TaqMan allelic discrimination
Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
21697130
DOI
10.1093/bioinformatics/btr383
PII: btr383
Knihovny.cz E-zdroje
- MeSH
- alely * MeSH
- genotypizační techniky * MeSH
- jednonukleotidový polymorfismus * MeSH
- polymerázová řetězová reakce metody MeSH
- software * MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
SUMMARY: The SNPman program calls the genotypes of single nucleotide polymorphisms (SNP) from TaqMan allelic discrimination assays. It utilizes the fluorescence data collected over the whole PCR run, rather than relying on the end point fluorescence measurements that is the basis of the genotype calling process in most software solutions sold with the real-time instruments. This inspection of run data facilitates genotype calls in difficult sample sets, especially in those containing various concentrations of DNA or inhibitors, as indicated by results of a reanalysis of 3738 genotyping samples. The program works with data from three different widely used PCR instruments. AVAILABILITY: The compiled program is available online at http://sourceforge.net/projects/snpman/files/, along with its user documentation and demonstration data files. It is free of charge for non-commercial users. CONTACT: Ondrej.Cinek@Lfmotol.cuni.cz SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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