This study identifies 251 genetic variants influencing plasma proteins in Greenlandic Inuit, revealing population-specific associations with cardiometabolic disease.

The American Journal of Human Genetics · Nov 12, 2025Peer-reviewedGenetic & Genomic Medicine

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease intervention

Emil Jørsboe, Mette Korre Andersen, Line Skotte, Frederik Filip Stæger, Nils Joakim Færgeman, Kristian Hanghøj, Cindy G. Santander, Ninna Karsbæk Senftleber, Lars Jorge Díaz, Maria Overvad, Ryan K. Waples, Frank Geller, Peter Bjerregaard, Mads Melbye, Christina Viskum Lytken Larsen, , Torben F. Hansen

The paper investigates the impact of the LDLR p.G137S variant on metabolic health and cardiovascular disease risk in Greenlanders, finding it increases FH and cardiovascular disease risk in up to 30% of the population.

Human Genetics and Genomics Advances · Jun 9, 2022Peer-reviewedGenetic & Genomic Medicine

Efficient approaches for large scale GWAS studies with genotype uncertainty

Emil Jørsboe, Anders Albrechtsen

The paper develops ANGSD-asso, a method for GWAS with genotype uncertainty, showing improved power and reduced bias in structured populations and with covariates.

G3 Genes Genomes Genetics · Dec 4, 2021Peer-reviewedBioinformatics

Population genomics of the Viking world

Ashot Margaryan, Daniel John Lawson, Martin Sikora, Fernando Racimo, Simon Rasmussen, Ida Moltke, Lara M. Cassidy, Emil Jørsboe, Andrés Ingason, Mikkel Winther Pedersen, Thorfinn Sand Korneliussen, Helene Wilhelmson, Magdalena M. Buś, Peter de Barros Damgaard, Rui Martiniano, , Eske Willerslev

This study analyzes ancient genomes from the Viking Age to understand genetic structure and migration patterns, finding significant foreign gene flow and population differentiation.

Nature · Sep 16, 2020Peer-reviewedGenetics

Ancestry-specific association mapping in admixed populations

Line Skotte, Emil Jørsboe, Thorfinn Sand Korneliussen, Ida Moltke, Anders Albrechtsen

This paper introduces a statistical method for association testing in admixed populations that allows ancestry-dependent effect sizes, improving power to detect associations and helping identify causal SNPs.

Genetic Epidemiology · Mar 18, 2019Peer-reviewedGenetics