Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that
improvements in diagnostic yield can be made by systematically reanalyzing previously …

Patients with developmental disorders often harbour sub-microscopic deletions or
duplications that lead to a disruption of normal gene expression or perturbation in the copy …

The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …

Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …

The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …

Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders.
Although GS can enumerate most non-coding variation, determining which non-coding …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …