Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

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 …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Batteries keep our devices working throughout the day–that is, they have a high energy
density–but they can take hours to recharge when they run down. For rapid power delivery …

In clinical exome and genome sequencing, there is a potential for the recognition and
reporting of incidental or secondary findings unrelated to the indication for ordering the …

With CRISPR/Cas9 and other genome-editing technologies, successful somatic and
germline genome editing are becoming feasible. To respond, an American Society of …

As more research studies incorporate next-generation sequencing (including whole-
genome or whole-exome sequencing), investigators and institutional review boards face …

The genetic testing and genetic screening of children are commonplace. Decisions about
whether to offer genetic testing and screening should be driven by the best interest of the …

In 1995, the American Society of Human Genetics (ASHG) and American College of Medical
Genetics and Genomics (ACMG) jointly published a statement on genetic testing in children …

Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …