Much of the work in the Cooper lab involves heavy computational analysis. Here, Greg Cooper, PhD, analyzes genome sequence data.
identified in sixteen individu- als (16%), eight of which had pathogenic or likely pathogenic variants.
Over the past decade, Cooper’s lab has kept up with advancing technology, adjusting their sequencing methods from exome sequencing to short-read genome sequencing to the newest technology, long-read genome sequencing. Long-read genome sequencing provides a far more comprehensive view of the genome, allowing scientists to identify many genetic variants that traditional sequenc- ing methods may miss. One type of variation that shows great promise in diagnosing rare diseases is structural variants. These include large deletions, duplications, inversions, translocations, and more complex events that can disrupt gene function, resulting in diseases. Dr. Cooper and his team feel confident that they will identify many variants with long-read genome sequencing that might be responsible for some individuals’ symptoms. In a study recently published in Genome Research , the Cooper lab performed long-read genome sequencing on 96 individuals who had received no diagnostic results from short-read sequencing 1 . New disease-relevant or potentially relevant genetic findings were
Because of the promising results from this study, Cooper and his lab, along with the HudsonAlpha Genome
Sequencing Center , were awarded a five-year, $2.9 million National Institutes of Health (NIH) grant to use long-read sequencing to re-sequence hundreds of genomes from individuals who previously had genome sequencing with no diagnostic results. In addition to potentially helping diagnose dozens of individuals, the study will allow computational biologists in the Cooper lab to continue updating and improving their analysis pipeline to identify more genetic variants in future individuals. ■
RESEARCH REPORT 2023-2024
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