Author

Ragnar P. Kristjansson

deCODE Genetics (Iceland)ORCID 0000-0002-3678-5693Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Daniel Fannar GudbjartssoniD· 4 shared Kāri StefánssoniD· 4 shared Unnur ÞorsteinsdóttiriD· 4 shared Olafur B. DavidssoniD· 3 shared Patrick SulemiD· 3 shared Bjarni Torfason· 2 shared Bjarni V. HalldórssoniD· 2 shared Hilma HólmiD· 2 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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4 shared papersGenetics

Daniel Fannar GudbjartssonORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineBritish Journal of CancerPeer-reviewedJul 14, 2026

Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening

Anne Krogh Nøhr, Marie Giehm Overby, Mads Munk Nielsen…·Steffen UIlltz Thorsen

This study evaluates polygenic risk scores (PRS) for colorectal cancer (CRC) screening, showing they stratify risk independently of ancestry and sex but offer limited additional predictive value when combined with FIT.

DOI 10.1038/s41416-026-03532-9

humanwhole-exome sequencing

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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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GeneticsbioRxivPreprintJan 8, 2019

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Deborah J. Thompson, Giulio Genovese, Jonatan Halvardson…·John R. B. Perry

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

6 citations

humanbulk RNA-seq

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GeneticsbioRxivPreprintNov 21, 2017

Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

Rósa B. Þórólfsdóttir, Garðar Sveinbjörnsson, Patrick Sulem…·Kāri Stefánsson

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.

2 citations

humanGWAS summary statistics

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