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 …

Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Background Rare diseases (RD) are a diverse collection of more than 7–10,000 different
disorders, most of which affect a small number of people per disease. Because of their rarity …

About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …

Simple Summary The implementation of precision medicine will revolutionize cancer
treatment paradigms. Notably, this goal is not far from reality: genetically similar cancers can …

Background Next-generation sequencing has become a first-line tool for the diagnosis of
primary immunodeficiency. However, patient access remains limited because of restricted …

Purpose Advances in genomic research have facilitated rare disease diagnosis for
thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic …

Background Parents of children with rare diseases often face uncertainty about diagnosis,
treatment, and costs associated with healthcare for their child. Health insurance status …

Many large research initiatives have cumulatively enrolled thousands of patients with a
range of complex medical issues but no clear genetic etiology. However, it is unclear how …