Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

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

Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of
ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To …

Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

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

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …