The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …

This paper contains a joint ESHG/ASHG position document with recommendations
regarding responsible innovation in prenatal screening with non-invasive prenatal testing …

If genome sequencing is performed in health care, in theory the opportunity arises to take a
further look at the data: opportunistic genomic screening (OGS). The European Society of …

It is paramount that any child or adolescent with a suspected disorder of sex development
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …

The advent of next-generation sequencing technologies has greatly promoted advances in
the study of human diseases at the genomic, transcriptomic, and epigenetic levels. Exome …

Background Due to rapid technical advances, steeply declining sequencing costs, and the
ever-increasing number of targeted therapies, it can be expected that extensive tumor …

Newborn screening was first introduced at the beginning of the 1960s with the successful
implementation of the first phenylketonuria screening programs. Early expansion of the …