Genome-Wide Analysis of Human Disease Alleles Reveals That Their Locations Are Correlated in Paralogous Proteins

Authors: Mark Yandell, Barry Moore, Fidel Salas, Chris Mungall, Andrew MacBride, Charles White, Martin G. Reese

DOI: 10.1371/journal.pcbi.1000218

Abstract Summary

Researchers discovered that disease-causing mutations often occur at matching positions in related human proteins (paralogs). By analyzing databases of known disease variants, they found these “variant-pairs” are correlated—if one causes disease, its partner likely does too. This breakthrough offers a new computational method to predict which genetic variants may cause disease, improving diagnosis and treatment strategies.

Why Brain? 🧠

Disease-causing mutations occur at matching positions in related human proteins, enabling better prediction of which genetic variants cause disease and improving diagnostic capabilities.

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