The laboratory of Johns Hopkins University's Alexis Battle has developed software that could help identify more causes of genetic disorders, especially when combined with expanded genetic sequencing.
The laboratory's Watershed system can sift through reams of genetic data, along with gene expression, to predict how variants from individual genomes will function.
Researchers validated those predictions in the lab and applied the findings to evaluate rare variants identified in vast gene datasets like the U.K. Biobank, the Million Veterans Program, and the Jackson Heart Study.
The personalized genomics field cannot currently characterize such variants because most abnormalities, specifically those that manifest in non-coding areas of the genome that do not specify a protein, are untested.
Battle said, "If you collect gene expression data, which shows which proteins are being produced in a patient's cells at what levels, we're going to be able to identify what's going on at a much higher rate."
From Hub, Johns Hopkins University
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