UCSC genomics scientist wins fellowship to clarify genetic risk for sudden heart failure
September 24, 2020 – Santa Cruz, CA – UC Santa Cruz Genomics Institute Research Scientist Melissa Cline of the Computational Genomics Lab was awarded a fellowship to the NHLBI BioData Catalyst program for her investigation titled “Elucidating the genetic risk of heritable cardiomyopathies through variant co-occurrence analysis.”
According to Cline’s proposal, heritable cardiomyopathies affect 1 in 200 to 500 individuals in the U.S., many of whom are symptom-free yet at risk of heart failure and sudden death (Hershberger, Hedges, and Morales 2013). “Genetic testing is helping to identify at-risk individuals, yet is limited by Variants of Uncertain Significance (VUS), which are genetic variants of unclear clinical impact,” Cline explains.
A powerful approach to interpreting VUS is analyzing variant co-occurrences: observing a VUS in the same subject as a known harmful variant can support a benign classification.
Cline will use the funds to support work to develop methods to mine co-occurrences from TOPMed, integrating the results with ClinGen, while ensuring TOPMed genotyping quality.
Dr. Cline is the second CGL researcher to receive this fellowship, following team member Dr. Jean Monlong.
See the BioData Catalyst Fellows Program announcement for more information.