UC Santa Cruz Awarded Grant to Fund Human Genetic Variation Map
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Earlier this year, the institute received a commitment of up to $1 million from the Simons Foundation to begin work on the map. With that funding, "we've been experimenting with pilot regions of the genome and evaluating a variety of methods," Genomics Institute researcher and project co-principal investigator Benedict Paten said in a statement.
With the money from the Keck Foundation, "the next steps will be to take it from a prototype to a full-scale genome reference that we can release to the community," he added.
To build the map, the Genomics Institute said its scientists have been collaborating with the Global Alliance for Genomics and Health, which includes more than 300 institutions sharing their genomic and clinical data.
It is expected that a new, comprehensive map will "replace the current assortment of isolated, incompatible databases of human genetic variation with a single, fundamental representation formalized as a very large mathematical graph," the institute stated. "This mathematical graph-based structure will augment the existing human reference genome with all common human variations, providing a means to name, identify, and analyze variations precisely and reproducibly."
