Microvillus inclusion disease ( MVID ) is one of the most severe congenital intestinal disorders
and is characterized by neonatal secretory diarrhea and the inability to absorb nutrients …

Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital
diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open‐access registry …

Background To gain statistical power or to allow fine mapping, researchers typically want to
pool data before meta-analyses or genotype imputation. However, the necessary …

The diagnostic yield of exome and genome sequencing remains low (8–70%), due to
incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq data …

… KJ Van der Velde … de Haan for helping set up the 1000IBD IT infrastructure; David van
Enckevort and Carin Tappel for making 1000IBD findable in catalogues; the … KJ Van der Velde …

Background RNA-sequencing (RNA-seq) is a powerful technique for the identification of
genetic variants that affect gene-expression levels, either through expression quantitative trait …

We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately
classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific …

Motivation The volume and complexity of biological data increases rapidly. Many clinical
professionals and biomedical researchers without a bioinformatics background are generating …

The genomes of thousands of individuals are profiled within Dutch healthcare and research
each year. However, this valuable genomic data, associated clinical data and consent are …

Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and
mucosal) fragility caused by pathogenic variants in various genes. The disease severity …