Author

H. Finucane

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Open access Oct 2026

Phenotypes of ultra-rare variant carriers benchmark variant effect scores

Human genetics needs benchmarks for evaluating variant scores against observed phenotypic consequences. We therefore present UKBBGym, which evaluates coding and non-coding scores against plasma protein abundance and quantitative traits observed in carriers of ultra-rare variants in the UK Biobank. This design avoids as...

Shubhankar Londhe, Eva Holtkamp, Georgios Tsitsiridis et al. · bioRxiv · 0 citations

#protein folding Open access Oct 2026

Functional architecture of rare protein coding variation across 786,871 exomes

The Kernel Allelic Series Model (KASM) is introduced, which integrates multiple functional annotations to form a kernel describing how allelic effects within a gene covary, and AlphaMissense is the single most enriched missense predictor, but a composite score doubles its enrichment.

Kangcheng Hou, H. Li, E. Nason et al. · medRxiv · 0 citations

#protein folding Open access Oct 2026

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Together, these results implicate a constellation of rare variants that map onto neuronal biology and demonstrate that diverse global populations converge on shared genetic signals underlying BD risk.

Calwing Liao, Robert Ye, J. Sealock et al. · medRxiv · 0 citations