Author

Bernd Auber

Medizinische Hochschule HannoverORCID 0000-0003-1880-291XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1

Frequent Co-Authors

Sandra v. HardenbergiD· 2 shared A. Elsayed· 1 shared A. L. Bruel· 1 shared ABCTB Investigators· 1 shared Aðalgeir ArasoniD· 1 shared Åke BorgiD· 1 shared Alicia C. Beeghly-FadieliD· 1 shared Alireza SedaghatiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Sandra v. HardenbergORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 4, 2026

XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

Sandra v. Hardenberg, Indra Niehaus, Anna Wiemers…·Bernd Auber

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

DOI 10.64898/2026.01.28.26344748

humanmouse

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BioinformaticsPLoS Computational BiologyPeer-reviewedSep 21, 2022

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss

Damianos P. Melidis, Christian Landgraf, Gunnar Schmidt…·Bernd Auber

GenOtoScope automates ACMG/AMP variant classification for congenital hearing loss, achieving higher accuracy and precision than existing tools.

9 citations

humanwhole-exome sequencing

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GeneticsNature GeneticsPeer-reviewedJan 1, 2020

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

GEMO Study Collaborators, Laura Fachal, EMBRACE Collaborators…·Peter Andreas Fasching

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

174 citationstop 1%

humanGWAS summary statistics

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