Author

Genom-RD

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Almuth CaliebeiD· 1 shared Caroline Utermann-ThüsingiD· 1 shared Daniel KaschtaiD· 1 shared Inga NageliD· 1 shared Inga Vater· 1 shared Malte SpielmanniD· 1 shared Simon Mueller· 1 shared Vincent Arriens· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Almuth CaliebeORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

AUTOMATED VERSUS MANUAL REANALYSIS IN RARE DISEASE GENOMICS

Daniel Kaschta, Vincent Arriens, Simon Mueller, Caroline Utermann-Thüsing, Genom-RD, Inga Vater, Almuth Caliebe, Inga Nagel, Malte Spielmann

The paper compares automated and manual reanalysis of rare disease genome sequencing data, finding automated methods achieve similar results with less effort.

medRxiv · May 19, 2026 · PreprintGenetic & Genomic Medicine