Panagiotis Katsonis

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

The paper evaluates variant effect predictions for ARSA gene variants, finding that a bootcamp-trained model outperformed others and that deep learning slightly improved performance over simpler methods.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

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.

Predicting the impact of rare variants on RNA splicing in CAGI6

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.

Evolutionary Action Score of TP53 Mutations: Integrated Clinico-pathologic And Protein Structural Analysis in Myelodysplastic Syndromes

The paper quantifies the impact of TP53 mutations in myelodysplastic syndromes using an evolutionary action score and correlates it with clinical and genomic features, finding that low-EAp53 mutations are associated with better survival.

Evolutionary Action of de novo missense variants across pathways prioritizes genes linked to autism and predicts patient phenotypic severity

The paper assesses de novo missense variants in autism spectrum disorder using Evolutionary Action to identify pathway biases and links variant impact to phenotypic severity.