Author

Charlotte van Dijk

University Medical Center Utrecht

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Brendan KennaiD· 1 shared Eleonora AronicaiD· 1 shared Ilia Sarah Timpanaro· 1 shared Jan Herman VeldinkiD· 1 shared Johnathan Cooper‐KnockiD· 1 shared Kevin Patrick KennaiD· 1 shared Leonard H. van den BergiD· 1 shared Maarten KooymaniD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Brendan KennaORCID

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1 paper

Recent·Most cited

Functional clustering of splice-altering variants in whole genome sequencing data reveals hidden heritability in rare variant disorder

Yan Wang, Charlotte van Dijk, Ilia Sarah Timpanaro, Paul J. Hop, Brendan Kenna, Maarten Kooyman, Eleonora Aronica, R. Jeroen Pasterkamp, Leonard H. van den Berg, Johnathan Cooper‐Knock, Jan Herman Veldink, Kevin Patrick Kenna

SpliPath identifies pathogenic splice-altering variants in ALS by integrating SpliceAI predictions with transcriptomics data, revealing hidden heritability in rare variant disorders.

bioRxiv · May 30, 2023 · PreprintBioinformatics