Yisu Peng

This paper reports on the fourth CAFA challenge, showing improvements in Gene Ontology term prediction but highlighting challenges in new evaluation settings.

The paper evaluates missense variant effect predictors using CAGI6 data, finding strong performance across settings and highlighting biases in some predictors.

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.