Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

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 …

Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

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 …

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders.
Although GS can enumerate most non-coding variation, determining which non-coding …

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

• Genome sequencing is a comprehensive genetic test that is being integrated into health
care systems internationally.• Test indications include suspected genetic disorders in …

Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …