Using biobank-level data to resolve phenotypes associated with genetic variants

The recent completion of the full telomere-to-telomere human genome using long-read sequencing has illuminated genomic regions previously intractable to analysis. Particular challenges have been overcome resolving tandem repeats – dynamic sections of DNA that are sequentially copied and can be thousands of base pairs different in length amongst individuals, including in coding exons. Large scale sequencing efforts of DNA from population biobanks has enabled integration between genetic variants and disease phenotypes. In this presentation we reveal how biobank data analysis from diverse populations uncovers phenotypes associated with genetic variants and tandem repeat expansions as a function of genetic ancestry. After viewing this lecture, participants should be able to: 1. Integrate population-scale biobank phenotype data with genetic risk variants. 2. Utilize long-read sequencing to identify disease-relevant tandem repeat expansions. 3. Develop new genotype to phenotype tools and resources. Paul Valdmanis, Associate Professor, Division of Medical Genetics, University of Washington School of Medicine 09/25/24 The University of Washington is committed to ensuring digital accessibility in our services, programs, and activities. If you encounter accessibility barriers using videos found on this channel, please contact UW Video at uwvideo [at] uw [dot] edu.