Author

Maria K. Haanpää

Turku University HospitalORCID 0000-0003-3731-863XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aashish SrivastavaiD· 1 shared Aleš MaveriD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Anders JemtiD· 1 shared Annabelle TuttleiD· 1 shared Ashish Kumar SinghiD· 1 shared Binnaz YalciniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperBioinformatics

Aashish SrivastavaORCID

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2 papers

Recent·Most cited

BioinformaticsGenome MedicinePeer-reviewedOct 17, 2025

Recommendations for Bioinformatics in Clinical Practice

Ksenia Lavrichenko, Emilie Sofie Engdal, Rasmus L. Marvig…·Frederik Otzen Bagger

This paper provides consensus recommendations for standardizing bioinformatics practices in clinical whole genome sequencing to ensure accuracy, reproducibility, and comparability of results.

21 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJan 14, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

1 citation

humanzebrafish

𝕏 PostBluesky