Yaqiong Wang

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.

The paper introduces HapICE, a method to improve variant detection in SBDS using NGS, achieving higher diagnostic accuracy than conventional methods.

The paper evaluates how parameter choices affect variant interpretation pipelines by systematically perturbing parameters and shows that certain choices significantly impact sensitivity and specificity.