Author

Simon Stacey

deCODE Genetics (Iceland)ORCID 0000-0002-4732-7380Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Daniel Fannar GudbjartssoniD· 2 shared Ingileif JónsdóttiriD· 2 shared Kāri StefánssoniD· 2 shared Unnur ÞorsteinsdóttiriD· 2 shared Aðalbjörg Jónasdóttir· 1 shared Agnar HelgasoniD· 1 shared Alfonso Buil Demur· 1 shared Andrea Barghetti· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Daniel Fannar GudbjartssonORCID

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2 papers

Recent·Most cited

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

Anne Krogh Nøhr, Marie Giehm Overby, Mads Munk Nielsen, Emil-August Torp, Rikke Hedegaard Jensen, Laurids Østergaard Poulsen, Ole Thorlacius‐Ussing, Simon Ladefoged Rasmussen, Berit Sanne Andersen, Ismail Gögenür, Erik Sørensen, Ole Birger Vesterager Pedersen, Christian Erikstrup, Nanna Brøns, Michael Schwinn, , 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.

British Journal of Cancer · Jul 14, 2026Peer-reviewedGenetic & Genomic Medicine

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