Author

Esther Schamschula

ORCID 0000-0002-8874-1713Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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. Betz· 1 shared C.F.H.A. Gilissen· 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

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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

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJun 1, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

B. van der Sanden, C. Betz, K. Herzog…·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.

DOI 10.1016/j.ajhg.2026.04.014

humanwhole-genome sequencing

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