Author

Inga Vater

Christian-Albrechts-Universität zu Kiel

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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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Almuth CaliebeiD· 2 shared Caroline Utermann-ThüsingiD· 2 shared Daniel KaschtaiD· 2 shared Inga NageliD· 2 shared Malte SpielmanniD· 2 shared Vincent Arriens· 2 shared Alexander Erich VolkiD· 1 shared Alexander Maximilian MünchauiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Almuth CaliebeORCID

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3 papers

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

Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis

Daniel Kaschta, Christina Post, Franziska Gaass, Milad Al-Tawil, Vincent Arriens, Saranya Balachandran, Tobias Bäumer, Valerie Berge, Friederike Birgel, Andreas Dalski, Maike Dittmar, André Franke, Sören Franzenburg, Janina Fuß, Bettina Gehring, , Malte Spielmann

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

Genome Medicine · Sep 17, 2025Peer-reviewedGenetic & Genomic Medicine

ACEseq - allele specific copy number estimation from whole genome sequencing

Kortine Kleinheinz, Isabell Bludau, Daniel Hübschmann, Michael C. Heinold, Philip Reiner Kensche, Zuguang Gu, Cristina López, Michael Hummel, Wolfram Klapper, Peter Loof Møller, Inga Vater, Rabea Wagener, ICGC MMML-Seq project, Benedikt Brors, Reiner Siebert, , Matthias Schlesner

ACEseq estimates allele-specific copy numbers, tumor purity, ploidy, and homologous recombination deficiency scores from tumor whole-genome sequencing by combining GC-bias correction, replication-timing correction, and structural variant breakpoints.

bioRxiv · Oct 29, 2017 · PreprintBioinformatics