Author

Ksenia Lavrichenko

Oslo University Hospital

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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Bioinformatics· 3 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 5 Organism:human· 4 Assay:whole-genome sequencing· 4 Research Focus:variant calling· 3 Research Focus:database / resource· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Stefan JohanssoniD· 3 shared Anette S. B. WolffiD· 2 shared Ellen Christine RøyrvikiD· 2 shared Haydeé ArtazaiD· 2 shared Marc VaudeliD· 2 shared Pål R. NjølstadiD· 2 shared Aashish SrivastavaiD· 1 shared Anders JemtiD· 1 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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3 shared papersBioinformatics

Stefan JohanssonORCID

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Author profile →

5 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

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

Haydeé Artaza, Divya Sri Priyanka Tallapragada, Janne Molnes, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen Christine Røyrvik, Torild Skrivarhaug, Marc Vaudel, Eirik Bratland, Bente Berg Johansson, Pål R. Njølstad, Stefan Johansson

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

medRxiv · Feb 25, 2025 · PreprintGenetic & Genomic Medicine

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipeline

Haydeé Artaza, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen Christine Røyrvik, Marc Vaudel, Stefan Johansson

This paper presents a scalable and automated pipeline for analyzing rare copy number variants in case-control studies using SNP array data, enabling efficient CNV detection, quality control, and impact assessment.

BMC Bioinformatics · Nov 15, 2024Peer-reviewedBioinformatics

SeeCiTe: a method to assess CNV calls from SNP arrays using trio data

Ksenia Lavrichenko, Øyvind Helgeland, Pål R. Njølstad, Inge Jonassen, Stefan Johansson

SeeCiTe improves CNV call quality using trio data by classifying calls and visualizing probe-level data, enhancing specificity and sensitivity in biobank-scale studies.

Bioinformatics · Jan 13, 2021Peer-reviewedBioinformatics

Six new reference-quality bat genomes illuminate the molecular basis and evolution of bat adaptations

David Jebb, Zixia Huang, Martin Pippel, Graham M. Hughes, Ksenia Lavrichenko, Paolo Devanna, Sylke Winkler, Lars Sommer Jermiin, Emilia C. Skirmuntt, Aris Katzourakis, Lucy Burkitt-Gray, David A. Ray, Kevin A. M. Sullivan, Juliana G. Roscito, Bogdan Kirilenko, , Emma C. Teeling

The paper generates six reference-quality bat genomes, identifies genomic adaptations related to echolocation, immunity, and viral tolerance, and reveals regulatory elements contributing to bat traits.

Nature · Jul 22, 2020Peer-reviewedGenomics