Hello,
Hi everyone,
My name is Andrew Hsu, and I’m a research student at an immunology lab at Boston Children’s Hospital. Our lab focuses on pediatric autoinflammatory diseases and immunometabolism, particularly how genetic variants impact monocyte and macrophage activation. A central focus of our current work is understanding the regulation of the SOCS1 gene, a key suppressor of cytokine signaling implicated in interferonopathies and other hyperinflammatory conditions.
We’ve previously used tools like CADD to evaluate variant pathogenicity, and we’re now looking to expand this work by incorporating AlphaGenome — especially to explore potential regulatory and splicing variants in and around SOCS1. We’re also beginning to work with population-scale biobank data, so we’re very interested in learning how AlphaGenome might be used to prioritize non-coding variants in that context.
That said, we’re still in the early stages and would really appreciate guidance from anyone familiar with AlphaGenome — especially as applied to related research. If someone from the AlphaGenome team or the broader community would be open to a short conversation, we’d be incredibly grateful.
Thanks in advance for your time and help!
Best,
Andrew