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The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.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

A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.

Daniel Svensson, Matilda Rentoft, Anna M. Dahlin, Emma Lundholm, Pall I. Olason, Andreas Sjödin, Carin Nylander, Beatrice S. Melin, Johan Trygg, Erik Johansson

The paper reports a whole-genome sequenced control population from northern Sweden, revealing genetic substructure and improving variant imputation accuracy.

PLoS ONE · Sep 11, 2020Peer-reviewedGenetics

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

Maxime Ulysse Garcia, Szilveszter Juhos, Malin Larsson, Pall I. Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz de Ståhl, Philip Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt

Sarek provides a portable and reproducible workflow for analyzing germline and somatic variants from whole-genome sequencing data.

F1000Research · Jan 29, 2020Peer-reviewedBioinformatics

De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Adam Ameur, Huiwen Che, Marcel Martin, Ignas Bunikis, Johan Dahlberg, Ida Höijer, Susana Häggqvist, Francesco Vezzi, Jessica Nordlund, Pall I. Olason, Lars Feuk, Ulf B Gyllensten

The paper performs de novo assembly of two Swedish genomes, identifies novel sequences absent from GRCh38, and shows improved variant calling with these sequences.

Genes · Oct 9, 2018Peer-reviewedGenomics

SweGen: A whole-genome map of genetic variability in a cross-section of the Swedish population

Adam Ameur, Johan Dahlberg, Pall I. Olason, Francesco Vezzi, Robert Karlsson, Marcel Martin, Johan Viklund, Andreas Kähäri, Pär Lundin, Huiwen Che, Jessada Thutkawkorapin, Jesper Eisfeldt, Samuel Lampa, Mats Dahlberg, Jonas Hagberg, , Ulf B Gyllensten

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.

European Journal of Human Genetics · Aug 23, 2017Peer-reviewedGenetics