Author

Tom G. J. Hofste

Radboud University Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 2 shared Alexander P.A. StegmanniD· 2 shared Amber den OudeniD· 2 shared Arthur van den Wijngaard· 2 shared Christian GilisseniD· 2 shared Debby M.E.I. HellebrekersiD· 2 shared Dorien LugtenbergiD· 2 shared Erik‐Jan KamsteegiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNew England Journal of MedicinePeer-reviewedJun 13, 2026

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath…·Lisenka E.L.M. Vissers

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

6 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2023

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden…·Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky