Ryo Yamamoto

A low-rank covariance probe on Evo 2 embeddings predicts ClinVar pathogenicity across SNVs and indels, while annotation probes plus an LLM produce mechanistic hypotheses; scores released for 4.2 million variants.

The paper introduces Sciege, a method to estimate cell type-specific isoform distributions using bulk and single-cell RNA-seq data, revealing age and Alzheimer's disease-related splicing changes.

dsRID predicts dsRNA regions using long-read RNA-seq data, showing high accuracy in Alzheimer's disease datasets and identifying distinct dsRNA expression patterns between AD and controls.

This study quantifies how aging and genetics influence gene expression across 27 human tissues, finding tissue-specific differences in their contributions and identifying signatures of aging and selection.