Author

Eline J.M. Bertrums

Oncode InstituteORCID 0000-0002-0012-7816Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:machine learning (classical)· 1 Approach:simulation· 1 Approach:statistical model· 1

Frequent Co-Authors

Arianne M. BrandsmaiD· 2 shared Laurianne TrabutiD· 2 shared Lucca L. M. DerksiD· 2 shared Mark VerheuliD· 2 shared Markus J. van RoosmaleniD· 2 shared Ruben van BoxteliD· 2 shared Sjors MiddelkampiD· 2 shared Andrea GuarracinoiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenomics

Arianne M. BrandsmaORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintOct 30, 2026

Somatic variant detection using an individual-specific pangenome reference: a case study of a pediatric acute myeloid leukemia patient

Elizaveta Kulaeva, Eline J.M. Bertrums, Markus J. van Roosmalen…·Andrea Guarracino

This study evaluates the impact of an individual-specific pangenome on somatic variant calling in a pediatric AML patient, finding reduced false positives and altered phylogenetic branching.

DOI 10.64898/2026.10.27.756267

humanwhole-genome sequencing

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GenomicsCell GenomicsPeer-reviewedAug 23, 2023

Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox

Sjors Middelkamp, Freek Manders, Flavia Peci…·Ruben van Boxtel

The paper introduces PTATO, a bioinformatic workflow for detecting somatic mutations in single-cell WGS data using PTA, achieving high sensitivity for base substitutions and indels.

24 citations

humanwhole-genome sequencing

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