Genome Sequencing Informatics Tools (GS-IT)
Sequencing with next-generation platforms has begun to outpace the ability of many researchers to manage, process, analyze, interpret, and make sense of their data using existing software solutions. This is especially true for scientists outside of large centers who may have less direct access to informatics support. NHGRI has initiated the Genome Sequencing Informatics Tools (GS-IT) Program in order to provide "researcher friendly" sequence analysis tools and software to a broad community of independent scientists who increasingly want to use genomics analysis in biological, biomedical and clinical research. GS-IT is intended to democratize access to useful analysis software for these researchers.
The GS-IT strategy is to invest in existing tools of known utility to make them sufficiently robust, reliable, documented, and supported that they can be readily adopted by most if not all biological or biomedical research laboratories. This includes tools to determine sequence quality, alignment, assembly, variant calling, structural variation, variant interpretation, annotation, and others. GS-IT also uses innovation such as deployment in the cloud or interactive visualization to ease the path of researchers who seek tools they can successfully use for sequence analysis.
The GS-IT Program uses the name "iSeqTools" as part of its public outreach effort. The iSeqTools label is used as a signpost and a mark of quality to help guide researchers who seek reliable, accessible sequence analysis. The iSeqTools Portal will be released soon to provide a unified landing spot to enable researchers to explore the iSeqTools collection.
Grantees of the Program
The currently funded U01 centers are:
- Boston College/University of Michigan: Gabor Marth and Goncalo Abecasis
- Broad Institute: Mark DePristo
- Harvard Medical School: Steve McCarroll
- Scripps Institute: Ali Torkamani
- University of Southern California: Ting Chen, Ewa Deelman, Jim Knowles
- Washington University: Li Ding
- Omicia: Martin Reese and Mark Yandell
- DNAStar: Tim Durfee
Heidi Sofia, Ph.D.
Posted: August 13, 2013