Swati Pothukuchi presented her research on Hypertrophic cardiomyopathy (HCM) research today.
Swati is a undergraduate researcher in the Carvajal-Carmona Lab. For the past year, she has been working independently on her own project to assess the prevalence of pathogenic variants within minority populations.
The project was prompted by Hugo Campos, a community Participant Ambassador for NIH All of Us program. Hugo is an advocate for HCM and has been wanting to address the research disparity in HCM for minorities. The NIH All of Us program provides researchers the ability access to explore next generation datasets for over 500K individuals.
Swati is currently working to identify known pathogenic variants and potentially pathogenic variants in participants with HCM and similar diseases. This research will assess the prevalence of known variants in minority populations and work to identify previously unknown potentially pathogenic variants that could help improve diagnosis of HCM.
She is utilizing existing clinical database such as ClinVar, OMIM, ClinGen to assess known pathogenic/likely pathogenic variants that have been clinically validated. She is also using whole genome sequencing datasets from All of Us to identify variants of unknown significance (VUS). VUSs will then be evaluated to identify computationally predicted pathogenic variants. Computational predictions will be based off current variant effect predictor software and databases (ie. AlphaMissense, CADD, Polyphen2, among others).