Author

Stephan Heijl

Bio-Prodict (Netherlands)ORCID 0000-0001-8920-4293Unclaimed 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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Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andreas HadjisavvasiD· 1 shared Anna González‐NeiraiD· 1 shared Anna JakubowskaiD· 1 shared Annika LindblomiD· 1 shared Anthony HowelliD· 1 shared Antoinette HollestelleiD· 1 shared Archie I CampbelliD· 1 shared Artitaya LophatananoniD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andreas HadjisavvasORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedMay 18, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Leila Dorling, Sara Carvalho, Jamie Allen…·Javier J. Benitez

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

55 citationstop 2%

humanbulk RNA-seq

𝕏 PostBluesky

BioinformaticsbioRxivPreprintMay 6, 2020

Mind the gap: preventing circularity in missense variant prediction

Stephan Heijl, Bas Vroling, Tom van den Bergh, Henk‐Jan Joosten

The paper identifies circularity issues in missense variant prediction and proposes a strategy to improve model performance and evaluation accuracy.

6 citations

GWAS summary statisticsstatistical model

𝕏 PostBluesky