Proton Rahman

The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.

This study identifies genetic risk factors associated with severe psoriasis and shows that polygenic risk scores can predict severe disease outcomes better than traditional risk factors.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

The paper examines genetic variations in the hACE2 gene across ethnic populations and assesses their potential impact on SARS-CoV-2 binding.