The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Nature Communications · Oct 31, 2025Peer-reviewedGenomics

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

Konrad J. Karczewski, Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo, Ying Wang, Raymond Kenney Walters, Patrick Turley, Shawneequa Callier, Nirav N. Shah, Nikolas A. Baya, Duncan S. Palmer, Jacqueline I. Goldstein, Gopal Sarma, Matthew Solomonson, , Alicia R. Martin

Meta-analyzing per-ancestry GWAS of 7,266 UK Biobank traits across six genetic ancestry groups adds 14,676 loci missed by European-only analysis, including ancestry-enriched CAMK2D and G6PD signals.

medRxiv · Mar 13, 2024 · PreprintGenetic & Genomic Medicine✦ In-depth digest

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

Patrick Turley, Alicia R. Martin, Grant Goldman, Hui Li, Masahiro Kanai, Raymond Kenney Walters, Jonathan Jala, Kuang Lin, Iona Y. Millwood, Caitlin E. Carey, Duncan S. Palmer, Meghan L. Zacher, Elizabeth G. Atkinson, Zhengming Chen, Liming Li, , Benjamin M. Neale

This paper introduces MAMA, a method for multi-ancestry GWAS meta-analysis, which identifies novel genetic associations and improves power across populations.

bioRxiv · Apr 23, 2021 · PreprintGenomics