Genetic & Genomic MedicinemedRxivPreprint
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots…·Tjakko J. van Ham
Author
Mark Drost
Erasmus MCORCID 0009-0009-9769-729XUnclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2025-2025 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 42 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship2 shared papersGenetic & Genomic Medicine
Dmitrijs RotsORCID
Mutual co-authors in cluster
2 papers
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- Genetic & Genomic MedicinemedRxivPreprint
Synthetic epigenomes for open cross-platform episignature classifiers
Federico Ferraro, Mark Drost, Herma van der Linde…·Dmitrijs Rots
The paper develops MethaDory, a framework to train and validate DNAm-based classifiers for rare diseases using synthetic data, achieving high accuracy across multiple platforms.
6 citations