NGSTools package provides an object model to enable different types of analyses of Next Generation Sequencing (NGS) data, and some utility programs to process reads aligned to different reference genomes. The most important tools in this package are SNVQ, an accurate Single Nucleotide Variants (SNV) detection and genotyping algorithm from base calls and quality scores and a rule set to merge read alignments to a CCDS transcripts library with alignments of the same reads to a reference assembly.
Bioinformatics Lab , Computer Science & Engineering Dept. University of Connecticut
- Windows / Linux / Mac OsX
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J. Duitama and P.K. Srivastava and I.I. Mandoiu,
Towards Accurate Detection and Genotyping of Expressed Variants fromWhole Transcriptome Sequencing Data
Proc. 1st IEEE International Conference on Computational Advances in Bio and Medical Sciences, pp. 87-92, 201