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Over ons Praktische zaken Waar vindt u ons M.A. (Morris) Swertz

Publicaties

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views

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

Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants

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

Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe

Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe

Navigating data standards in public health: A brief report from a data-standards meeting

NMR metabolomics-guided DNA methylation mortality predictors