Adhvaith Sridhar

Correlations of 276 missense variants of PSEN1, PSEN2, and APP on the production of Aβ peptides against variant effect predictors and biophysical structures

This study correlates 276 missense variants in PSEN1, PSEN2, and APP with Aβ peptide levels and variant effect predictors to assess pathogenicity in early-onset Alzheimer's disease.

Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein

This study evaluates AlphaMissense and other tools for distinguishing gain-of-function and loss-of-function variants in PIEZO1, finding they struggle with GoF predictions and highlighting structural and biophysical insights.