Il 29/05/2025 ore 14.30 – 16.30.
Semina hel by prof. Suzanne M. Leal PHD, Columbia University- Dept of Neurology.
Abstract
Rare-variant (RV) aggregate association analysis (AAA) can increase the power to detect associations compared to analyzing individual variants. The utility and caveats of performing RVAAA is demonstrated through a study of age-related (AR) hearing loss (HL) which analyzed UK Biobank exome sequence data and self-reported HL phenotypes. The study brings new insights into the etiology of ARHL, demonstrating many Mendelian genes, i.e., 32, which have been implicated in early onset HL also play a role in the …
