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

Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases.
However, standard, semi-automated WGS analysis may overlook diagnoses in complex …

Background Genomic variants which disrupt splicing are a major cause of rare genetic
diseases. However, variants which lie outside of the canonical splice sites are difficult to …

The identification of structural variants (SVs) in genomic data represents an ongoing
challenge because of difficulties in reliable SV calling leading to reduced sensitivity and …

Craniosynostosis may present in isolation,'non-syndromic', or with additional congenital
anomalies/neurodevelopmental disorders,'syndromic'. Clinical focus shifted from confirming …

Craniosynostosis, the premature fusion of the cranial sutures, affects~ 1 in 2000 children.
Although many patients with a genetically determined cause harbor a variant in one of just …

Many genetic testing methodologies are biased towards picking up structural variants (SVs)
that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely …

Detection of structural variants (SVs) is currently biased toward those that alter copy number.
The relative contribution of inversions toward genetic disease is unclear. In this study, we …

SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a
statistical enrichment of de novo mutations. Using data from the 100,000 Genomes Project …

Craniosynostosis (CRS) is a disease with prematurely fused cranial sutures. In the last
decade, the whole-exome sequencing (WES) was widely used in Caucasian populations …