Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …

Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

Background Children and families living with rare disease often experience significant
health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be …

Despite clear technical superiority of genome sequencing (GS) over other diagnostic
methods such as exome sequencing (ES), few studies are available regarding the …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes …

Purpose The vast majority of rare diseases (RDs) are complex, disabling, and life-
threatening conditions with a genetic origin. RD patients face significant health challenges …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-
disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an …

Rapid advances in sequencing technology have led to an explosive increase in the number
of genetic variants identified in patients with neurological disease and have also enabled …

Background Rare genetic conditions are frequent risk factors for, or direct causes of,
paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected …