Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical
genetic assessments, but there are limited data regarding its clinical use. We previously …

Purpose To compare the efficacy of whole genome sequencing (WGS) with targeted next-
generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). Design …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

Genomic technologies inform the complex genetic basis of polygenic inflammatory bowel
disease (IBD) as well as Mendelian disease-associated IBD. Aiming to diagnose patients …

Genomic medicine enables the identification of patients with rare or ultra-rare monogenic
forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients …

Importance Molecular diagnosis is difficult to achieve in disease groups with a highly
heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients …

Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …

Next-generation sequencing (NGS) technologies have changed the landscape of genetic
testing in rare diseases. However, the rapid evolution of NGS technologies has outpaced its …