Publication Type : Journal Article
Publisher : BMC Bioinformatics
Source : BMC Bioinformatics, Biomed Central, Volume 11, Number 471 (2010)
Url : http://www.biomedcentral.com/1471-2105/11/471
Campus : Amritapuri, Bengaluru
School : School of Engineering
Center : Biotechnology
Department : Computer Science
Year : 2010
Abstract : The enormous throughput and low cost of second-generation sequencing platforms now allow research and clinical geneticists to routinely perform single experiments that identify tens of thousands to millions of variant sites. Existing methods to annotate variant sites using information from publicly available databases via web browsers are too slow to be useful for the large sequencing datasets being routinely generated by geneticists. Because sequence annotation of variant sites is required before functional characterization can proceed, the lack of a high-throughput pipeline to efficiently annotate variant sites can act as a significant bottleneck in genetics research.
Cite this Research Publication : A. Carl Shetty, Dr. Prashanth Athri, Mondal, K., Horner, V. L., Steinberg, K. Meltz, Patel, V., Caspary, T., Cutler, D. J., and Zwick, M. E., “SeqAnt: A web service to rapidly identify and annotate DNA sequence variations”, BMC Bioinformatics, vol. 11, 2010.