Author

Felix Boschann

Berlin Institute of Health at Charité - Universitätsmedizin BerlinORCID 0000-0001-9410-9290Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:imaging· 1

Frequent Co-Authors

Alexej KnausiD· 3 shared Hannah KlinkhammeriD· 2 shared Hellen LesmanniD· 2 shared Henrike L. SczakieliD· 2 shared Jean Tori PanteliD· 2 shared Luisa AverdunkiD· 2 shared Magdalena DanyeliD· 2 shared Manuel HoltgreweiD· 2 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alexej KnausORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 6, 2023

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

28 citations

humanimaging

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Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

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BioinformaticsbioRxivPreprintJan 27, 2020

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen…·Dieter Beule

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

1 citation

whole-exome sequencingstatistical model

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