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Genetics
Iceland
2026

D-Index & Metrics

Genetics

D-Index
85
Citations
37299
World Ranking
1286
National Ranking
10

Research.com Recognitions

  • 2026 - Research.com Genetics in Iceland Leader Award

Overview

Thorunn Rafnar is affiliated with deCODE Genetics in Iceland. Their research spans the fields of Medicine as well as Biochemistry, Genetics and Molecular Biology, with a particular focus on Genetics, Molecular Biology, Surgery, Pathology and Forensic Medicine, and Hematology.

The scientist has contributed to studies on various topics, including:

  • Genetic Associations and Epidemiology
  • Epigenetics and DNA Methylation
  • Genetic factors in colorectal cancer
  • Cancer Genomics and Diagnostics
  • Genomics and Rare Diseases
  • RNA modifications and cancer
  • Testicular diseases and treatments

Thorunn Rafnar has published papers in prominent journals. Some of the recent publications include:

  • Large-scale integration of the plasma proteome with genetics and disease, 2021, Nature Genetics
  • The sequences of 150,119 genomes in the UK Biobank, 2022, Nature
  • Large-scale plasma proteomics comparisons through genetics and disease associations, 2023, Nature
  • Multiomics study of nonalcoholic fatty liver disease, 2022, Nature Genetics
  • FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease, 2020, Nature

Frequent co-authors in the scientist's collaborations include Kāri Stefánsson, Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Patrick Sulem, and Ingileif Jónsdóttir.

Publications by Thorunn Rafnar appear regularly in several key venues, notably:

  • Nature Genetics
  • Nature Communications
  • Nature
  • Communications Biology
  • Cancer Research

Best Publications

  • A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

    Thorgeir E Thorgeirsson;Frank Geller;Patrick Sulem;Thorunn Rafnar

  • Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

    Gudmar Thorleifsson;G Bragi Walters;Daniel F Gudbjartsson;Valgerdur Steinthorsdottir

  • Erratum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer (Nature Genetics (2009) 41 (991-995))

    Xifeng Wu;Yuanqing Ye;Lambertus A. Kiemeney;Patrick Sulem

  • Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

    Bhairavi Swaminathan;Guðmar Thorleifsson;Magnus Jöud;Mina Ali

  • Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

    Julius Gudmundsson;Patrick Sulem;Andrei Manolescu;Laufey T Amundadottir

  • Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

    Simon N Stacey;Andrei Manolescu;Patrick Sulem;Thorunn Rafnar

  • Genetic determinants of hair, eye and skin pigmentation in Europeans.

    Patrick Sulem;Daniel F Gudbjartsson;Simon N Stacey;Agnar Helgason

  • Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes

    Julius Gudmundsson;Patrick Sulem;Valgerdur Steinthorsdottir;Jon T. Bergthorsson

  • Large-scale whole-genome sequencing of the Icelandic population

    Daniel F Gudbjartsson;Hannes Helgason;Sigurjon A Gudjonsson;Florian Zink

  • Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

    Thorgeir E Thorgeirsson;Daniel F Gudbjartsson;Ida Surakka;Ida Surakka;Jacqueline M Vink

  • Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

    James D McKay;Rayjean J Hung;Younghun Han;Xuchen Zong

  • Many sequence variants affecting diversity of adult human height

    Daniel F Gudbjartsson;G Bragi Walters;Gudmar Thorleifsson;Hreinn Stefansson

  • Large-scale integration of the plasma proteome with genetics and disease.

    Egil Ferkingstad;Patrick Sulem;Bjarni A Atlason;Gardar Sveinbjornsson

  • Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

    Thorunn Rafnar;Patrick Sulem;Simon N Stacey;Frank Geller

  • Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.

    Florian Zink;Simon N. Stacey;Gudmundur L. Norddahl;Michael L. Frigge

  • Parental influence on human germline de novo mutations in 1,548 trios from Iceland

    Hákon Jónsson;Patrick Sulem;Birte Kehr;Snaedis Kristmundsdottir

  • Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

    Cathy E. Elks;John R B Perry;Patrick Sulem;Daniel I. Chasman

  • A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.

    Maria Teresa Landi;Nilanjan Chatterjee;Kai Yu;Lynn R. Goldin

  • Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.

    Simon N Stacey;Andrei Manolescu;Patrick Sulem;Steinunn Thorlacius

  • Detection of sharing by descent, long-range phasing and haplotype imputation

    Augustine Kong;Gisli Masson;Michael L Frigge;Arnaldur Gylfason

Frequent Co-Authors

Kari Stefansson
Kari Stefansson deCODE Genetics (Iceland)
Unnur Thorsteinsdottir
Unnur Thorsteinsdottir deCODE Genetics (Iceland)
Daniel F. Gudbjartsson
Daniel F. Gudbjartsson deCODE Genetics (Iceland)
Patrick Sulem
Patrick Sulem deCODE Genetics (Iceland)
Gudmar Thorleifsson
Gudmar Thorleifsson deCODE Genetics (Iceland)
Lambertus A. Kiemeney
Lambertus A. Kiemeney Radboud University
Gisli Masson
Gisli Masson deCODE Genetics (Iceland)
Augustine Kong
Augustine Kong University of Oxford
Asgeir Sigurdsson
Asgeir Sigurdsson deCODE Genetics (Iceland)
Ingileif Jonsdottir
Ingileif Jonsdottir deCODE Genetics (Iceland)

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