Skip to ContentSkip to Navigation
How to find us ing. B. Charbon

Publications

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

BiobankUniverse: Automatic matchmaking between datasets for biobank data discovery and integration

MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

The ARVD/C Genetic Variants Database: 2014 Update

Read more