Skip to ContentSkip to Navigation
founded in 1614  -  top 100 university
About us Practical matters How to find us dr. K.J. (Joeri) van der Velde
University Medical Center Groningen

dr. K.J. (Joeri) van der Velde

Assistant professor
Profile picture of dr. K.J. (Joeri) van der Velde
E-mail:
k.j.van.der.velde umcg.nl

Publications

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

The burden of TTN variants in the genomic era:: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

An exploratory study combining Virtual Reality and Semantic Web for life science research using Graph2VR

Molgenis Vip: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods

An interconnected data infrastructure to support large-scale rare disease research

FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis

A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Press/media

Meld je nu aan voor de workshop over FAIR data stewardship en datamanagement

Sustainable Development Goals

SDG 3 - Good Health and Well-beingSDG 9 - Industry, Innovation, and Infrastructure

More information about the Sustainable Development Goals.