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NovelSNPer : A Fast Tool for the Identification and Characterization of Novel SNPs and InDels
Joint Authors
Bortfeldt, Ralf H.
Brockmann, Gudrun A.
Aßmus, Jens
Schmitt, Armin O.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-10-31
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Biology
Abstract EN
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 present a classification scheme for InDels.
NovelSNPer is based upon the gene structure information stored in Ensembl.
It processes two million SNPs in six hours.
The tool can be used online or downloaded.
American Psychological Association (APA)
Aßmus, Jens& Schmitt, Armin O.& Bortfeldt, Ralf H.& Brockmann, Gudrun A.. 2011. NovelSNPer : A Fast Tool for the Identification and Characterization of Novel SNPs and InDels. Advances in Bioinformatics،Vol. 2011, no. 2011, pp.1-11.
https://search.emarefa.net/detail/BIM-488788
Modern Language Association (MLA)
Aßmus, Jens…[et al.]. NovelSNPer : A Fast Tool for the Identification and Characterization of Novel SNPs and InDels. Advances in Bioinformatics No. 2011 (2011), pp.1-11.
https://search.emarefa.net/detail/BIM-488788
American Medical Association (AMA)
Aßmus, Jens& Schmitt, Armin O.& Bortfeldt, Ralf H.& Brockmann, Gudrun A.. NovelSNPer : A Fast Tool for the Identification and Characterization of Novel SNPs and InDels. Advances in Bioinformatics. 2011. Vol. 2011, no. 2011, pp.1-11.
https://search.emarefa.net/detail/BIM-488788
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-488788