Author

Sigurjon Axel Gudjonsson

deCODE Genetics (Iceland)ORCID 0000-0001-9314-7412Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1 Research Focus:imputation· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Agnar HelgasoniD· 4 shared Bjarni V. HalldórssoniD· 4 shared Daniel Fannar GudbjartssoniD· 4 shared Gísli MássoniD· 4 shared Kāri StefánssoniD· 4 shared Ólafur Þ. MagnússoniD· 4 shared Patrick SulemiD· 4 shared Unnur ÞorsteinsdóttiriD· 4 shared

Activity by Year

2018-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Agnar HelgasonORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

GeneticsNaturePeer-reviewedJul 20, 2022

The sequences of 150,119 genomes in the UK biobank

Bjarni V. Halldórsson, Hannes P. Eggertsson, Kristjan H. S. Moore…·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.

448 citationstop 1%

humanwhole-genome sequencing

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GenomicsbioRxivPreprintFeb 18, 2022

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

Grímur Hjörleifsson Eldjárn, Egil Ferkingstad, Sigrún H. Lund…·Kāri Stefánsson

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

2 citations

proteomicsbenchmarking

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GeneticsNature GeneticsPeer-reviewedMay 10, 2021

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…·Kāri Stefánsson

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

279 citationstop 1%

humanwhole-genome sequencing

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GenomicsNature GeneticsPeer-reviewedOct 31, 2018

Recurrence of de novo mutations in families

Hákon Jónsson, Patrick Sulem, Gudny Anna Arnadottir…·Kāri Stefánsson

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

115 citationstop 2%

humanstatistical model

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