Author

C. Betz

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· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared B. van der Sanden· 1 shared C.F.H.A. Gilissen· 1 shared Esther SchamschulaiD· 1 shared Hanno J. BolziD· 1 shared Ira Vater· 1 shared Johannes ZschockeiD· 1 shared Jordi Corominas· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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1 paper

Recent·Most cited

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