Author

Martin Bøgsted

Aalborg University HospitalORCID 0000-0001-9192-1814Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Inge Søkilde PederseniD· 2 shared Karen DybkæriD· 2 shared Alfonso Buil Demur· 1 shared Andrea Barghetti· 1 shared Andreas RøderiD· 1 shared Andrew Joseph SchorkiD· 1 shared Anne KrejbjergiD· 1 shared Anne Krogh NøhriD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Inge Søkilde PedersenORCID

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2 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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 8, 2025

Benchmarking homologous recombination deficiency algorithms for prediction of clinical outcome in ovarian cancer

Lasse Ringsted Mark, Inge Søkilde Pedersen, Anne Krejbjerg…·Martin Bøgsted

This study benchmarks three HRD detection algorithms in ovarian cancer patients, finding all showed significant association with improved progression-free survival, while BRCA1/2 mutations did not.

DOI 10.1101/2025.10.08.25337487

humanwhole-genome sequencing

𝕏 PostBluesky