Sanna Gudmundsson

Sanna Gudmundsson

Assistant Professor

Leverages large-scale omics datasets to improve the interpretation of rare disease variants, improve diagnostics, and accelerate the implementation of precision medicine for rare disease patients

Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
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About me

  • Sanna is an Assistant Professor at Karolinska Institutet and an affiliated researcher at the Broad Institute of MIT and Harvard. Her research leverages large-scale omics datasets, such as gnomAD, the Broad Center for Mendelian Genomics and dGTEx, to improve the interpretation of rare disease variants. She studies the mechanisms underlying incomplete penetrance and variable expressivity to better understand why pathogenic variants lead to diverse clinical outcomes. Her work aims to improve genetic diagnostics and accelerate the implementation of precision medicine for rare disease patients. 

    Five selected publications

    1. Gudmundsson, S., Singer-Berk, M., Stenton, S. L., [...] Rehm, H. L., MacArthur, D. G., & O’Donnell-Luria, A. (2025). Exploring penetrance of clinically relevant variants in over 800, 000 humans from the Genome Aggregation Database. Nature Communications, 16(1), 9623.
    Exploring potential disease-variants in gnomAD, specifically focusing on pLoF variants in 77 genetic disorders.

    2. Singer-Berk, M.*, Gudmundsson, S.*, Baxter, S., [...] MacArthur, D. G., Rehm, H. L., & O’Donnell-Luria, A. (2023). Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. Am. J. Hum. Genet., 110(9), 1496–1508.
    Framework and considerations regarding pLoF variant interpretation, relevant for research but also clinical settings.

    3. Gudmundsson, S., Singer-Berk, M., Watts, N. A., [...] Genome Aggregation Database Consortium, Rehm, H. L., MacArthur, D. G., & O’Donnell-Luria, A. (2022). Variant interpretation using population databases: Lessons from gnomAD. Human Mutation, 43(8), 1012–1030.
    Methods for variant interpretation using population data from gnomAD. Cited over 750 times,

    4. Kämpe, A., Gudmundsson, S., Walsh, C. P., [...] Lappalainen, T. (2025). Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare. Nat. Med., 1–3.
    White paper on the Precision Omics Initiative Sweden (PROMISE) project, a national effort to boost large-scale data-driven precision medicine research in Sweden by providing streamlined multi-omics data and infrastructure.

    5. Gudmundsson, S., Karczewski, K. J., Francioli, L. C., [...], … MacArthur, D. G. (2021). Addendum: The mutational constraint spectrum quantified from variation in 141, 456 humans. Nature.
    An analysis following up on the original gnomAD flagship paper (v2), addressing the interpretation of homozygous pLoF variants in gnomAD found in AR OMIM disease genes

Articles

All other publications

Employments

  • Assistant Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2026-2032
  • Postdoctoral Fellow (KA Wallenberg Fellowship), Lappalainen Lab, KTH Royal Institute of Technology / SciLifeLab, 2026-2026
  • Postdoctoral Fellow (KA Wallenberg Fellowship), O'Donnell-Luria Lab, Broad Institute of MIT and Harvard, 2019-2022

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