An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …

Purpose: Evaluation of the clinician's role in the optimal interpretation of clinical exome
sequencing (ES) results. Methods: Retrospective chart review of the first 155 patients who …

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …

Background Recent clinical whole exome sequencing (WES) cohorts have identified
unanticipated multiple genetic diagnoses in single patients. However, the frequency of …

Unlocking Mendelian disease using exome sequencing | Genome Biology Skip to main
content SpringerLink Account Menu Find a journal Publish with us Track your research Search …

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 …

Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …

Purpose Reanalysis of exome sequencing data when results are negative may yield
additional diagnoses. We sought to estimate the contribution of clinical geneticists to the …

Background Exome sequencing is now being incorporated into clinical care for pediatric and
adult populations, but its integration into prenatal diagnosis has been more limited. One …