Author

Kate Kotschet

Royal Children's Hospital

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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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adriana Rebelo· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Carolin K. ScribaiD· 1 shared Chia-Lin WeiiD· 1 shared Chiara L FollandiD· 1 shared Chloe M. ReuteriD· 1 shared Daniel G. CalameiD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adriana Rebelo

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1 paper

Recent·Most cited

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

Matt Christopher Danzi, Isaac R. L. Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Liedewei Van de Vondel, Chloe M. Reuter, Jacinda B. Sampson, Chiara L Folland, Carolin K. Scriba, Gavin Monahan, Phillipa J. Lamont, Julie Wertz, Adriana Rebelo, , Stephan L. Zuchner

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

bioRxiv · Jan 6, 2025 · PreprintGenomics