Andreas Zankl

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Ontoclick is a web browser extension that simplifies ontology term annotation in biomedical texts, making knowledge curation more accessible.

ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.