Arjun Kumar Manrai

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort

The paper evaluates a deep learning model's performance in predicting pathogenicity of missense variants in a rare disease cohort and identifies limitations in its accuracy for intrinsically disordered regions.

Poly-Exposure and Poly-Genomic Scores Implicate Prominent Roles of Non-Genetic and Demographic Factors in Four Common Diseases in the UK

The paper develops a poly-exposure score (PXS) to assess combined genetic and non-genetic risk factors for four diseases, showing PXS outperforms polygenic risk scores in some cases.