PolyScan | Tool name | PolyScan |
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| URL | http://genome.wustl.edu/software/polyscan |
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| Important features | 1. A software tool specially designed to provide de novo indel detection and SNP identification in the context of high-throughput medical sequencing.
2. PolyScan starts the analysis from the raw chromatograms and re-basecall signals in the each of the fluorescence channels.
3. This feature makes PolyScan applicable to both polymorphism and mutation discovery, which requires analyzing of small intensity signals.
4. Alignment and Bayesian probabilistic methods are used to compute probabilities of SNPs as well as small and medium-sized indels (< 100bp). |
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| Citations | Chen K, McLellan MD, Ding L, Wendl MC, Kasai Y, Wilson RK, Mardis ER.
PolyScan: an automatic indel and SNP detection approach to the analysis of human
resequencing data. Genome Res. 2007 May;17(5):659-66. Epub 2007 Apr 6. PubMed
PMID: 17416743; PubMed Central PMCID: PMC1855178. |
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| Year of publication | 2007 |
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| Rank by usage frequency | 100 |
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| Comments | |
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| Function | SNP discovery, Indel discovery |
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| Category | Free |
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| License | GNU |
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| Operating system | Windows 32/64bit
Linux/Unix 32/64bit
Mac OS X 32/64bit |
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| Operating language | C++ |
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