Author

Jordi Corominas

Radboud University Medical Center

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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Genetic & Genomic Medicine· 5

Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:variant calling· 5 Assay:whole-genome sequencing· 4 Approach:statistical model· 3 Approach:experimental assay· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Christian GilisseniD· 4 shared Helger G. YntemaiD· 4 shared Lisenka E.L.M. VissersiD· 4 shared Ronny C. DerksiD· 4 shared Alexander HoischeniD· 3 shared Amber den OudeniD· 3 shared Arthur van den Wijngaard· 3 shared Erik‐Jan KamsteegiD· 3 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Christian GilissenORCID

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5 papers

Recent·Most cited

Clinical long-read genome sequencing for rare disease diagnostics

Tessa J.J. de Bitter, Bart P. G. H. van der Sanden, Lydia Sagath, Wolfram Höps, Peer Arts, Michelle de Groot, Marjan M. Weiss, Ronny C. Derks, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Timon van Leeuwen, Jordi Corominas, Jos G.A. Smits, Lot Snijders Blok, , Lisenka E.L.M. Vissers

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

New England Journal of Medicine · Jun 13, 2026Peer-reviewedGenetic & Genomic Medicine

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

B. van der Sanden, C. Betz, K. Herzog, Esther Schamschula, K. Wimmer, Ira Vater, S. Balachandran, Jordi Corominas, Raoul Timmermans, Ronny C. Derks, M. Spielmann, MA Eberle, C.F.H.A. Gilissen, L.E.L.M. Vissers, Johannes Zschocke, , Alexander Hoischen

This study shows that PacBio HiFi long-read sequencing with Paraphase variant caller detects all clinically relevant variants in paralogous regions, improving variant calling accuracy.

The American Journal of Human Genetics · Jun 1, 2026Peer-reviewedGenetic & Genomic Medicine

HiFi long-read genomes for difficult-to-detect clinically relevant variants

Wolfram Höps, Marjan M. Weiss, Ronny C. Derks, Jordi Corominas, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, , Lisenka E.L.M. Vissers

The paper demonstrates that HiFi long-read sequencing can detect 93% of clinically relevant variants challenging to identify with short-read sequencing, using 30x coverage and showing potential for cost-effective diagnostic implementation.

The American Journal of Human Genetics · Jan 13, 2025Peer-reviewedGenetic & Genomic Medicine

Genome sequencing as a generic diagnostic strategy for rare disease

Gaby Schobers, Ronny C. Derks, Amber den Ouden, Hilde L. Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom G. J. Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, , Lisenka E.L.M. Vissers

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

medRxiv · Sep 28, 2023 · PreprintGenetic & Genomic Medicine

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Bart P. G. H. van der Sanden, Jordi Corominas, Michelle de Groot, Maartje Pennings, Rowdy P. P. Meijer, Nienke E. Verbeek, Bart P.C. van de Warrenburg, Meyke I. Schouten, Helger G. Yntema, Lisenka E.L.M. Vissers, Erik‐Jan Kamsteeg, Christian Gilissen

This study systematically analyzes short tandem repeats in exomes to improve diagnostic yield in genetic testing.

Genetics in Medicine · Apr 12, 2021Peer-reviewedGenetic & Genomic Medicine