Within the Netherlands a national network of biobanks has been established (Biobanking and
Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the …

Most disease-associated genetic variants are noncoding, making it challenging to design
experiments to understand their functional consequences 1 , 2 . Identification of expression …

Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology 1 , 2 . Expression quantitative trait loci (eQTLs) help to explain the …

Genome-wide association studies have identified hundreds of genetic variants associated
with blood pressure (BP), but sequence variation accounts for a small fraction of the …

We tested whether DNA-methylation profiles account for inter-individual variation in body
mass index (BMI) and height and whether they predict these phenotypes over and above …

Background The multifaceted control of gene expression requires tight coordination of
regulatory mechanisms at transcriptional and post-transcriptional level. Here, we studied the …

Implementation of next-generation DNA sequencing (NGS) technology into routine
diagnostic genome care requires strategic choices. Instead of theoretical discussions on the …

Genome-wide association and fine-mapping studies in 14 autoimmune diseases (AID) have
implicated more than 250 loci in one or more of these diseases. As more than 90% of AID-…

Although previous studies have documented a bottleneck in the transmission of mtDNA
genomes from mothers to offspring, several aspects remain unclear, including the size and …

Motivation Unambiguous variant descriptions are of utmost importance in clinical genetic
diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (…