Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …

Rare genetic diseases are typically caused by a single gene defect. Despite this clear
causal relationship between genotype and phenotype, identifying the pathobiological …

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …

Management of datasets that include health information and other sensitive personal
information of European study participants has to be compliant with the General Data …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …

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 …

Technological advances in both genome sequencing and prenatal imaging are increasing
our ability to accurately recognize and diagnose Mendelian conditions prenatally …