This study identifies 58 genomic regions associated with meiotic recombination, 24 of which are sex-specific, and finds a moderate genetic correlation between male and female recombination rates.

bioRxiv · May 2, 2026 · PreprintGenomics

Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage

David Westergaard, Valgerður Steinthórsdóttir, Lilja Stefánsdóttir, Palle Duun Rohde, Xiaoping Wu, Frank Geller, Jaakko S. Tyrmi, Aki Samuli Havulinna, Pol Solé-Navais, Christopher J. Flatley, Sisse Rye Ostrowski, Ole Birger Pedersen, Christian Erikstrup, Erik Sørensen, Christina Mikkelsen, , Henriette Svarre Nielsen

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

medRxiv · Aug 10, 2023 · PreprintGenetic & Genomic Medicine

The sequences of 150,119 genomes in the UK biobank

Bjarni V. Halldórsson, Hannes P. Eggertsson, Kristjan H. S. Moore, Hannes Hauswedell, Ögmundur Eiríksson, Magnus Orn Ulfarsson, Gunnar Pálsson, Marteinn Thor Hardarson, Ásmundur Oddsson, Brynjar Ö. Jensson, Snædís Kristmundsdóttir, Brynja D. Sigurpalsdottir, Ólafur Andri Stefánsson, Doruk Beyter, Guillaume Holley, , Kāri Stefánsson

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

Nature · Jul 20, 2022Peer-reviewedGenetics

Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Doruk Beyter, Helga Ingimundardóttir, Ásmundur Oddsson, Hannes P. Eggertsson, Eyþór Björnsson, Hákon Jónsson, Bjarni A. Atlason, Snædís Kristmundsdóttir, Svenja Mehringer, Marteinn Thor Hardarson, Sigurjon Axel Gudjonsson, Droplaug N. Magnúsdóttir, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Ragnar P. Kristjansson, , Kāri Stefánsson

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

Nature Genetics · May 10, 2021Peer-reviewedGenetics

A MUC5B polymorphism associated with Idiopathic Pulmonary Fibrosis mediates overexpression through decreased CpG methylation and C/EBPb transcriptional activation

Amaranta U. Armesto-Jimenez, Ari Jón Arason, Ólafur Andri Stefánsson, Gunnar Guðmundsson, Þórarinn Guðjónsson, Magnús K. Magnússon

This study identifies a MUC5B polymorphism associated with IPF that increases expression through reduced CpG methylation and enhanced C/EBPβ transcriptional activation.

bioRxiv · Dec 18, 2019 · PreprintGenetics

Genome-wide analysis yields new loci associating with aortic valve stenosis

Anna Helgadóttir, Guðmar Þorleifsson, Sólveig Grétarsdóttir, Ólafur Andri Stefánsson, Vinicius Tragante, Rósa B. Þórólfsdóttir, Ingileif Jónsdóttir, Þorsteinn Björnsson, Valgerður Steinthórsdóttir, Niek Verweij, Jonas Bille Nielsen, Wei Zhou, Lasse Folkersen, Andreas Martinsson, Mahyar Heydarpour, , Kāri Stefánsson

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

Nature Communications · Mar 1, 2018Peer-reviewedGenetics