Author

Doreen Thor

Leipzig UniversityORCID 0000-0002-9522-5098Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Angela SchulziD· 1 shared Antje GarteniD· 1 shared Björn SchulteiD· 1 shared Denny Popp· 1 shared Diana Le DuciD· 1 shared Felix Garten· 1 shared Frank BösebeckiD· 1 shared Janet F. KelsoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

Angela SchulzORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineNAR Genomics and BioinformaticsPeer-reviewedDec 2, 2025

SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome

Linnaeus Bundalian, Martina Strnadová, Felix Garten…·Diana Le Duc

SyMetrics evaluates the pathogenicity of synonymous variants using a machine learning model that integrates multiple predictors, achieving high accuracy in distinguishing deleterious from benign variants.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky