Author

Ronja Hotakainen

University of HelsinkiORCID 0000-0002-7610-8064Unclaimed 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 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aarno V. PalotieiD· 1 shared Aashish SrivastavaiD· 1 shared Anastasia Kytölä· 1 shared Anders JemtiD· 1 shared Anna SyreeniiD· 1 shared Anni A. AntikaineniD· 1 shared Ashish Kumar SinghiD· 1 shared Carol M. ForsblomiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aarno V. PalotieORCID

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2 papers

Recent·Most cited

Recommendations for Bioinformatics in Clinical Practice

Ksenia Lavrichenko, Emilie Sofie Engdal, Rasmus L. Marvig, Anders Jemt, Jone Marius Vignes, Henrikki Almusa, Kristine Bilgrav Sæther, Eiríkur Briem, Eva Caceres, Edda María Elvarsdóttir, Magnús Halldór Gíslason, Maria K. Haanpää, Viktor Henmyr, Ronja Hotakainen, Eevi Kaasinen, , 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.

Genome Medicine · Oct 17, 2025Peer-reviewedBioinformatics

Novel protein-altering variants associated with serum apolipoprotein and lipid levels

Niina Sandholm, Ronja Hotakainen, Jani K. Haukka, Fanny Jansson Sigfrids, Emma H. Dahlström, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno V. Palotie, Valma Harjutsalo, Carol M. Forsblom, Per‐Henrik Groop, on behalf of the FinnDiane Study Group

The paper identifies novel protein-altering variants associated with serum apolipoprotein and lipid levels using whole-exome and whole-genome sequencing data from individuals with type 1 diabetes.

Genome Medicine · Nov 23, 2022Peer-reviewedGenetic & Genomic Medicine