The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The American Journal of Human Genetics · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine

Genomic impact of the second plague pandemic on three human populations

Xiaodong Liu, Kristjan H. S. Moore, S. Sunna Ebenesersdóttir, Caroline Arcini, Gordon Turner‐Walker, Sean Dexter Denham, Philip Slavin, Maja Birk Søtofte, Sascha Dreyer, Martin R. Ellegaard, Åshild J. Vågene‬, Ashot Margaryan, Miren Iraeta-Orbegozo, Dorothea Mylopotamitaki, Jason E. Laffoon, , Ida Moltke

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

bioRxiv · Aug 26, 2026 · PreprintGenomics

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

Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease

Grímur Hjörleifsson Eldjárn, Egil Ferkingstad, Sigrún H. Lund, Hannes Helgason, Ólafur Þ. Magnússon, Thorunn Asta Olafsdottir, Bjarni V. Halldórsson, Pall I. Olason, Florian Zink, Sigurjon Axel Gudjonsson, Garðar Sveinbjörnsson, Magnus I. Magnusson, Agnar Helgason, Ásmundur Oddsson, Gisli Hreinn Halldorsson, , Kāri Stefánsson

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

bioRxiv · Feb 18, 2022 · PreprintGenomics

The genetic structure of Norway

Morten Mattingsdal, S. Sunna Ebenesersdóttir, Kristjan H. S. Moore, Ole A. Andreassen, Thomas Folkmann Hansen, Thomas Mears Werge, Ingrid Skelton Kockum, Tomas P Olsson, Lars S. Alfredsson, Agnar Helgason, Kāri Stefánsson, Eivind J. Hovig

This study examines the genetic structure of the Norwegian population, identifying two distinct genetic regions and highlighting the impact of geography on migration patterns and ancestry.

European Journal of Human Genetics · May 17, 2021Peer-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

The genetic origins of Saint Helena’s liberated Africans

Marcela Sandoval‐Velasco, Anuradha Jagadeesan, María C. Ávila‐Arcos, Shyam Gopalakrishnan, Jazmín Ramos‐Madrigal, J. Víctor Moreno-Mayar, Gabriel Renaud, Diana Ivette Cruz Dávalos, Erna Johannesdóttir, Judy Watson, Kate Robson-Brown, Andrew Pearson, Agnar Helgason, Marcus Thomas P. Gilbert, Hannes Schroeder

The paper uses ancient DNA analysis of 20 individuals from St Helena to determine the genetic origins of liberated Africans, finding they came from West Central Africa and were culturally diverse.

bioRxiv · Oct 1, 2019 · PreprintGenomics

Recurrence of de novo mutations in families

Hákon Jónsson, Patrick Sulem, Gudny Anna Arnadottir, Gunnar Pálsson, Hannes P. Eggertsson, Snædís Kristmundsdóttir, Florian Zink, Birte Kehr, Kristján Eldjárn Hjörleifsson, Brynjar Ö. Jensson, Ingileif Jónsdóttir, S Marelsson, Sigurjon Axel Gudjonsson, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, , Kāri Stefánsson

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

Nature Genetics · Oct 31, 2018Peer-reviewedGenomics

The nature of nurture: effects of parental genotypes

Augustine Kong, Guðmar Þorleifsson, Michael L. Frigge, Bjarni Jóhann Vilhjálmsson, Alexander I. Young, Thorgeir Elís Thorgeirsson, Stefania Benónísdóttir, Ásmundur Oddsson, Bjarni V. Halldórsson, Gísli Másson, Daniel Fannar Gudbjartsson, Agnar Helgason, Gyða Björnsdóttir, Unnur Þorsteinsdóttir, Kāri Stefánsson

The paper shows that non-transmitted parental alleles affect a child's traits through their impact on parents and relatives, termed genetic nurture, with significant effects on educational attainment and other traits.

Science · Jan 25, 2018Peer-reviewedGenetics