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 …

Abstract Infertility affects 8–12% of couples globally, and the male factor is a primary cause
in~ 50% of couples. Male infertility is a multifactorial reproductive disorder, which can be …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

Background and Objectives Owing to their extensive clinical and molecular heterogeneity,
hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge …

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …

Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect
the quality of life of affected individuals. The development of next-generation sequencing …

Genetic testing has undergone a revolution in the last decade, particularly with the advent of
next-generation sequencing and its associated reductions in costs and increases in …

In the era of precision medicine, genome sequencing (GS) has become more affordable and
the importance of genomics and multi-omics in clinical care is increasingly being …

Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …

Abstract Introduction The Undiagnosed Diseases Network (UDN), a clinical research study
funded by the National Institutes of Health, aims to provide answers for patients with …