With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …

Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have
become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there …

Genetic diagnosis of rare diseases requires accurate identification and interpretation of
genomic variants. Clinical and molecular scientists from 37 expert centers across Europe …

Purpose Genome sequencing (GS)–specific diagnostic rates in prospective tightly
ascertained exome sequencing (ES)–negative intellectual disability (ID) cohorts have not …

Rare diseases are life-threatening or chronically debilitating conditions affecting millions of
people worldwide. In many instances, the patients experience a delay in their diagnosis or …

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171
exome sequencing datasets from 5757 families affected by a rare disease (RD). The data …

Objective To assess how genetics and-omics information is used in the most cited recent
clinical trials, and to evaluate industry involvement and transparency patterns. Study design …

Recent advances in next generation sequencing (NGS) have positioned whole exome
sequencing (WES) as an efficient first‐tier method in genetic diagnosis. However, despite …

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic
nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson's …

Cornelia de Lange syndrome (CdLS, OMIM# 122470,# 300590,# 300882,# 610759, and#
614701) is a rare congenital disorder that affects the development of multiple organs and is …