Paul J. Norman

This paper introduces scTAPAS, a method to reconstruct donor genotypes from scRNA-seq data, enabling eQTL and HLA-TCR analysis without conventional genotyping.

The paper analyzes genetic ancestry in South African Coloured groups to reveal persistent Khoe-San ancestry and traces Indian Ocean slave trade signatures.

KIR*BLOOM improves KIR genotyping accuracy by modeling copy number and sequencing errors, achieving high precision and recall on whole-genome sequencing data.

Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.

The paper tests HLA dissimilarity in Himba pastoralists and finds no evidence of disassortative mating or fitness benefits from HLA differences in either arranged or chosen partnerships.

MHConstructor provides a haplotype-informed, high-throughput pipeline for de novo MHC assembly from short read data, improving upon reference-based methods.

The paper completes six MHC haplotypes, including DR1, DR4, and structurally variable C4 regions, improving reference panels for immunogenomics analysis.

The paper shows that the L412F polymorphism in TLR3 is associated with severe COVID-19 in males by inhibiting autophagy and reducing TNF production.

The paper examines how self-reported race and geographic ancestry relate to genetic data in a large U.S. cohort, finding that combining both measures better reflects genetic ancestry than either alone.

The paper examines the genetic diversity of CHC22 clathrin and its impact on glucose metabolism, finding that a variant is less effective at controlling GLUT4 traffic and is more common in farming populations.

The paper conducts a GWAS in non-European populations, identifies new genetic loci, and highlights the importance of diverse cohorts for understanding complex traits.