Paul Avillach

VarPPUD improves the prioritization of pathogenic variants in undiagnosed genetic disorders by distinguishing likely from unlikely disease-causing variants using machine learning.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

This study evaluates the efficacy of obesity polygenic risk scores in autistic versus non-autistic populations, finding that genetic variants associated with obesity in non-autistic populations are less representative in autistic individuals.

FAIRshake evaluates the FAIRness of research digital resources through community-driven metrics, automated assessments, and visualization tools, revealing opportunities for improvement.