Author

Jorma Toppari

University of TurkuORCID 0000-0003-2228-334XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1 Systems Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 4 Organism:human· 4 Approach:statistical model· 4 Assay:metabolomics· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Matej OrešičiD· 3 shared Mikael KnipiD· 3 shared Heikki HyötyiD· 2 shared Jorma IloneniD· 2 shared Partho SeniD· 2 shared Riitta VeijolaiD· 2 shared Tuulia HyötyläineniD· 2 shared Agnes Andersson SvärdiD· 1 shared

Activity by Year

2019-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersBioinformatics

Matej OrešičORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineeLifePeer-reviewedFeb 2, 2026

Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B

Özkan Aydemir, Jeffrey A. Bailey, Daniel Agardh…·TEDDY Study Group

The paper identifies tri-SNP haplotypes in HLA-DRA associated with type 1 diabetes and celiac disease, and links them to differences in complement system genes C4A and C4B.

DOI 10.7554/elife.89068.2

humanGWAS summary statistics

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BioinformaticsEpigeneticsPeer-reviewedMar 4, 2022

Permutation-based significance analysis reduces the type 1 error rate in bisulfite sequencing data analysis of human umbilical cord blood samples

Essi Laajala, Viivi Halla-aho, Toni Grönroos…·Harri J Lähdesmäki

The paper evaluates the type 1 error rate in bisulfite sequencing analysis of umbilical cord blood samples and finds that permutation-based significance analysis reduces it, with minimal differential methylation associated with clinical variables except sex.

8 citations

humanDNA methylation

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Molecular BiologybioRxivPreprintJun 7, 2019

Metabolic Alterations in Human Peripheral Blood Mononuclear Cells Associate with Progression to Islet Autoimmunity and Type 1 Diabetes

Partho Sen, Alex M. Dickens, María Asunción López-Bascón…·Matej Orešič

The paper identifies metabolic patterns in PBMCs associated with progression to islet autoimmunity and T1D using longitudinal metabolomics and metabolic modeling.

1 citation

humanmetabolomics

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Systems BiologyClinical and Translational GastroenterologyPeer-reviewedMay 10, 2019

Persistent alterations in plasma lipid profiles prior to introduction of gluten in the diet associate with progression to celiac disease

Partho Sen, Cecilia Carlsson, Suvi Mirjami Virtanen…·Matej Orešič

The paper identifies lipid profile changes in children before gluten introduction that associate with progression to celiac disease.

49 citationstop 2%

humanmetabolomics

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