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

Bjarni V. Halldorsson , Bjarni V. Halldorsson , Droplaug N. Magnusdottir , Daniel F. Gudbjartsson
bioRxiv 848366

127
2020
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.

Thorhildur Olafsdottir , Simon N. Stacey , Gardar Sveinbjornsson , Gudmar Thorleifsson
Cancer Research 81 ( 8) 1954 -1964

2021
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Brynjar O. Jensson , Sif Hansdottir , Gudny A. Arnadottir , Gerald Sulem
BMC Medical Genetics 18 ( 1) 129 -129

29
2017
A rare missense variant in NR1H4 associates with lower cholesterol levels.

Aimee M Deaton , Patrick Sulem , Paul Nioi , Stefania Benonisdottir
Communications Biology 1 ( 1) 14

3
2018
Differences between germline genomes of monozygotic twins

Agnar Helgason , Patrick Sulem , Daniel F. Gudbjartsson , Kari Stefansson
Nature Genetics 53 ( 1) 27 -34

80
2021
Spread of SARS-CoV-2 in the Icelandic Population.

Daniel F. Gudbjartsson , Agnar Helgason , Hakon Jonsson , Olafur T. Magnusson
The New England Journal of Medicine 382 ( 24) 2302 -2315

1,508
2020
Humoral Immune Response to SARS-CoV-2 in Iceland.

Daniel F. Gudbjartsson , Gudmundur L. Norddahl , Pall Melsted , Kristbjorg Gunnarsdottir
The New England Journal of Medicine 383 ( 18) 1724 -1734

974
2020
Graphtyper enables population-scale genotyping using pangenome graphs

Hannes P Eggertsson , Hakon Jonsson , Snaedis Kristmundsdottir , Eirikur Hjartarson
Nature Genetics 49 ( 11) 1654 -1660

164
2017
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.

Unnur Styrkarsdottir , Olafur A Stefansson , Kristbjorg Gunnarsdottir , Gudmar Thorleifsson
Nature Communications 10 ( 1) 2054

24
2019
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.

Hannes P. Eggertsson , Snaedis Kristmundsdottir , Doruk Beyter , Hakon Jonsson
Nature Communications 10 ( 1) 5402 -5402

88
2019
Characterizing mutagenic effects of recombination through a sequence-level genetic map.

Bjarni V. Halldorsson , Gunnar Palsson , Olafur A. Stefansson , Hakon Jonsson
Science 363 ( 6425)

184
2019
The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

Laurits Skov , Moisès Coll Macià , Garðar Sveinbjörnsson , Fabrizio Mafessoni
Nature 582 ( 7810) 78 -83

65
2020
The sequences of 150,119 genomes in the UK Biobank

Bjarni V Halldorsson , Hannes P Eggertsson , Kristjan HS Moore , Hannes Hauswedell
Nature 607 ( 7920) 732 -740

63
2022
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Asmundur Oddsson , Patrick Sulem , Gardar Sveinbjornsson , Gudny A Arnadottir
nature communications 14 ( 1) 3453 -3453

7
2023
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

Valgerdur Steinthorsdottir , Bjarni V Halldorsson , Hakon Jonsson , Gunnar Palsson
Nature structural & molecular biology 1 -7

1
2024
Actionable genotypes and their association with life span in Iceland

Brynjar O Jensson , Gudny A Arnadottir , Hildigunnur Katrinardottir , Run Fridriksdottir
New England Journal of Medicine 389 ( 19) 1741 -1752

6
2023
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

Simon N Stacey , Florian Zink , Gisli H Halldorsson , Lilja Stefansdottir
Nature Genetics 55 ( 12) 2149 -2159

10
2023
Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies

Kristjan E Hjorleifsson , Solvi Rognvaldsson , Hakon Jonsson , Arna B Agustsdottir
Clinical Microbiology and Infection 28 ( 6) 852 -858

11
2022
Molecular benchmarks of a SARS-CoV-2 epidemic

Hakon Jonsson , Olafur T Magnusson , Pall Melsted , Jonas Berglund
Nature Communications 12 ( 1) 3633 -3633

3
2021
Untangling repeated sequences

Brian McStay , Hakon Jonsson
NATURE 617 ( 7960) 257 -258

2023