Tarun Mamidi, a doctoral candidate in CGDS, recently participated in the Critical Assessment of Genome Interpretation (CAGI⁕⁕) Workshop from September 29 to October 1, 2023, in Boston, Massachusetts.
His presentation, “DITTO: Automated tertiary rare disease diagnosis pipeline using explainable Machine Learning,” highlighted innovative approaches to rare disease diagnosis.
The CAGI⁕⁕ Workshop is a gathering aimed at advancing genome interpretation techniques and addressing ethical, methodological, and technological challenges in the field. Through discussions on variant impact prediction and clinical genome interpretation, the event fosters collaboration among experts to enhance diagnosis and treatment strategies.
Tarun’s contribution to this forum underscores our lab’s commitment to leveraging technology for meaningful advancements in genome interpretation.
