Author

Petra Gehle

Deutsches Herzzentrum der CharitéORCID 0000-0002-0652-8098Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam KlocperkiD· 1 shared Adam S.L. GraefeiD· 1 shared Alexander J.M. DingemansiD· 1 shared Alexander MordhorstiD· 1 shared Andrés Caballero-OteyzaiD· 1 shared Angela MarcelloiD· 1 shared Bert B A De VriesiD· 1 shared Catharina SchuetziD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam KlocperkORCID

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1 paper

Recent·Most cited

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S.L. Graefe, Viktor Bílý, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica X. Chong, Evan Connelly, Bert B A De Vries, Alexander J.M. Dingemans, Michael Duyzend, Tomáš Freiberger, Petra Gehle, , Peter N. Robinson

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

The American Journal of Human Genetics · Dec 23, 2025Peer-reviewedGenetic & Genomic Medicine