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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

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

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

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

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

Ten quick tips for building FAIR workflows