The paper identifies structural and biophysical determinants of blood group antigen expression and uses machine learning to predict variant effects on antigenic and null phenotypes.

bioRxiv · Jul 7, 2026 · PreprintBioinformatics

Resolving genotype-phenotype discrepancies of the Kidd blood group using nanopore sequencing

Morgan Gueuning, Gian Andri Thun, Nadine Trost, Linda H. Schneider, Sonja Sigurdardottir, Charlotte Engström, Naemi Larbes, Yvonne Merki, Beat M. Frey, Christoph Gassner, S Meyer, Maja P. Mattle‐Greminger

This study uses nanopore sequencing to resolve genotype-phenotype discrepancies in the Kidd blood group system by detecting structural variants and novel alleles.

Biomedicines · Jan 19, 2024Peer-reviewedGenetics

New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations

Frauke C. Degenhardt, David Ellinghaus, Simonas Juzėnas, Jon Lerga-Jaso, Mareike Wendorff, Douglas Maya‐Miles, Florian Uellendahl-Werth, Hesham ElAbd, Malte Christoph Rühlemann, Jatin Arora, Onur Özer, Ole Bernt Lenning, Ronny Myhre, May Sissel Vadla, Eike Matthias Wacker, , Elio Scarpini

This study identifies a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

Human Molecular Genetics · Jul 15, 2022Peer-reviewedGenetic & Genomic Medicine