Author

Tord Jonson

Lund UniversityORCID 0000-0001-6100-8282Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ann NordgreniD· 2 shared Anna WedelliD· 2 shared Daniel Carlberg· 2 shared Daniel NilssoniD· 2 shared Fulya TaylaniD· 2 shared Irene DubaiD· 2 shared Kristina KarrmaniD· 2 shared Nicole LeskoiD· 2 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ann NordgrenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 13, 2026

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

Adam Ameur, Fulya Taylan, Marlene Ek…·Hans Ehrencrona

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

DOI 10.64898/2026.10.09.26365121

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 23, 2026

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba…·Tommy Stödberg

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky