Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

This article reviews advancements in the genetics of malignant hyperthermia, new
technologies and approaches for its diagnosis, and the existing limitations of genetic testing …

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its
second funding cycle, is investigating the effectiveness of integrating genomic (exome or …

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Background Despite growing evidence of diagnostic yield and clinical utility of whole exome
sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and …

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 …

Over the past decade, exome sequencing (ES) has allowed significant advancements to the
field of disease research. By targeting the protein-coding regions of the genome, ES …

Currently, pathogenic variants in more than 500 different genes are known to cause various
movement disorders. The increasing accessibility and reducing cost of genetic testing has …

ABSTRACT Purpose Secondary findings (SFs) are present in 1–4% of individuals
undergoing genome/exome sequencing. A review of how SFs are disclosed and what …

Pharmacogenomics (PGx), a substantial component of “personalized medicine”, seeks to
understand each individual's genetic composition to optimize drug therapy––maximizing …