Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

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 …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise …

Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem
developmental disorder characterized by highly variable manifestations of growth and …

Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …

Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

Background At least 50% of patients with suspected Mendelian disorders remain
undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

The advancements made in next‐generation sequencing (NGS) technology over the past
two decades have transformed our understanding of genetic variation in humans and had a …

In the past 5 years transcriptome or RNA-sequencing (RNA-seq) has steadily emerged as a
complementary assay for rare disease diagnosis and discovery. In this perspective, we …