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breed in kennis  -  sterk in techniek
Over ons Praktische zaken Waar vindt u ons dr. K.J. (Joeri) van der Velde
University Medical Center Groningen

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

Assistent professor
Profielfoto van dr. K.J. (Joeri) van der Velde
E-mail:
k.j.van.der.velde umcg.nl

Publicaties

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

Pers/media

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

Sustainable Development Goals

SDG 3 – Goede gezondheid en welzijnSDG 9 – Industrie, innovatie en infrastructuur

Meer informatie over de Sustainable Development Goals.