Jordan C. Wood

The paper estimates genetic prevalence for 22 autosomal recessive conditions using gnomAD data and develops a tool to democratize these calculations, highlighting the dynamic nature of prevalence estimates.

The paper estimates the genetic prevalence of PLA2G6-associated neurodegeneration using database and literature-based approaches, finding higher prevalence in African/African-American and Asian populations.

This paper presents a framework to reduce false positives in predicted loss-of-function variants by analyzing LoF evasion mechanisms and adjusting ACMG/AMP guidelines.

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.