Daniel Balsam

Interpretable variant effect prediction from genomic foundation model embeddings

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.

Human whole-epigenome modelling for clinical applications with Pleiades

Pleiades, a whole-genome epigenetic model, detects Alzheimer's and Parkinson's disease from plasma cell-free DNA with high accuracy.

Genome modeling and design across all domains of life with Evo 2

A 40B-parameter DNA model trained on 9.3 trillion tokens scores coding and noncoding variants zero-shot, exposes interpretable sequence features, and writes chromosome-scale sequences.