Author

Stef van Lieshout

Hartwig Medical Foundation

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 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:benchmarking· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Bauke YlstraiD· 2 shared Edwin P. J. G. CuppeniD· 2 shared Ewart de BruijniD· 2 shared Margaretha G.M. RoemeriD· 2 shared Remond J.A. FijnemaniD· 2 shared Aaron M. WengeriD· 1 shared Alexander HoischeniD· 1 shared Andrew StubbsiD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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2 shared papersGenomics

Bauke YlstraORCID

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Author profile →

3 papers

Recent·Most cited

A multi-platform reference for somatic structural variation detection

Jose Espejo Valle-Inclán, Nicolle J.M. Besselink, Ewart de Bruijn, Daniel Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel R. Nelen, Andy Wing Chun Pang, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, , Edwin P. J. G. Cuppen

The paper compiles a comprehensive reference dataset of true somatic structural variations by analyzing melanoma and normal cell lines with multiple sequencing technologies and experimental validation.

Cell Genomics · Jun 1, 2022Peer-reviewedGenomics

Detection of fusion transcripts and their genomic breakpoints from RNA sequencing data

Youri Hoogstrate, Malgorzata A. Komor, René Böttcher, Job van Riet, Harmen J.G. van de Werken, Stef van Lieshout, Ralf Hoffmann, Evert van den Broek, Anne S. Bolijn, Natasja F. J. Dits, Daoud Sie, David van der Meer, Floor Pepers, Chris H. Bangma, Geert J.L.H. van Leenders, , Guido W Jenster

Dr. Disco identifies fusion transcripts and genomic breakpoints using non poly(A)-enriched RNA-seq data, revealing transcribed rearrangements and their expression effects in cancer samples.

bioRxiv · May 17, 2021 · PreprintBioinformatics

Clinical validation of Whole Genome Sequencing for cancer diagnostics

Paul Roepman, Ewart de Bruijn, Stef van Lieshout, Lieke Schoenmaker, Mirjam C. Boelens, Hendrikus Jan Dubbink, Willemina R.R. Geurts-Giele, Floris H. Groenendijk, Manon M. H. Huibers, Mariëtte E.G. Kranendonk, Margaretha G.M. Roemer, Kris G. Samsom, Marloes Steehouwer, Wendy W.J. de Leng, Alexander Hoischen, , Edwin P. J. G. Cuppen

This study validates whole genome sequencing as a reliable single assay for detecting various cancer mutations with high sensitivity and precision.

Journal of Molecular Diagnostics · May 6, 2021Peer-reviewedGenetic & Genomic Medicine