NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels.
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ABSTRACT:
SUBMITTER: Aßmus J
PROVIDER: S-EPMC3206323 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Publications
NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels.
Aßmus Jens J Schmitt Armin O AO Bortfeldt Ralf H RH Brockmann Gudrun A GA
Advances in bioinformatics 20111031
Typically, next-generation resequencing projects produce large lists of variants. NovelSNPer is a software tool that permits fast and efficient processing of such output lists. In a first step, NovelSNPer determines if a variant represents a known variant or a previously unknown variant. In a second step, each variant is classified into one of 15 SNP classes or 19 InDel classes. Beside the classes used by Ensembl, we introduce POTENTIAL_START_GAINED and START_LOST as new functional classes and p ...[more]
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