Dominik Seelow

The paper quantifies how single nucleotide variants affect NKX2.1 transcription factor binding and uses neural networks to predict disease-causing variants in regulatory regions.

The paper shows that alternative splicing is coupled to gene expression in a subset of variably expressed genes across multiple tissues.

The paper uses deep learning to identify non-canonical GRHL1 binding sites not detected by traditional PWM methods.

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

The paper identifies sex-biased differential alternative splicing across multiple human tissues and links it to gene function and estrogen response.

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

Phenotero integrates ontology annotation into writing workflows by leveraging Zotero to reference ontology classes in clinical reports and manuscripts.