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NHGRI Funds New Sequencing Data Software Projects

NEW YORK (GenomeWeb News) –The National Human Genome Research Institute has awarded $4 million to projects focused on creating software platforms to handle the vast amounts of data produced from DNA sequencing studies.

NHGRI has awarded six new grants to researchers who will create "robust, well-documented and well-supported" software programs for analyzing genome sequence data. The grants were funded under the institute's $416 million Genome Sequencing Program, but the software tools developed through these projects will be made freely available for use beyond NHGRI's sequencing centers.

"The forthcoming surge of genome sequence data will inevitably create an analysis bottleneck unless computational tools can be developed for easy access and use in finding the biological information encoded in our genomes," NHGRI Director Eric Green said in a statement. "The goal is to develop user-friendly informatics tools for accelerating the use of genome sequence information in basic and clinical research."

The Informatics Tools for High-Throughput Sequence Data Analysis awards include a grant of $1 million to Boston College and University of Michigan scientists to develop software tools and workflows for variant identification and functional assessment; $345,000 to University of Southern California, Los Angeles researchers to produce portable workflow-based tools for mRNA and genome sequencing; $1 million to a Broad Institute investigator for Genome Analysis Toolkit software for high-throughput sequence data analysis; $805,000 to Washington University, St. Louis investigators to produce toolkits and a computational framework for high-throughput variant discovery and interpretation; $448,000 to a Harvard Medical School project to produce accurate genome structural variation analysis using large-scale sequence data; and $382,000 to the Scripps Translational Science Institute to develop the Scripps Genome Adviser.

"We are committed to getting reliable informatics tools into the hands of researchers who are doing biological experiments so that the analysis of large amounts of sequence data do not become a rate-limiting step," added NHGRI program director for computational biology Heidi Sofia. "The funded investigators will work together to help overcome barriers that researchers face when working with next-generation genome sequence data."

NHGRI also said it plans to spend nearly $20 million over the next four years to make existing computational tools more accessible and to accelerate the analysis of genome sequence data.