Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (…

The Electronic Medical Records and Genomics Network is a National Human Genome
Research Institute–funded consortium engaged in the development of methods and best …

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

… For each of the W age windows the mean Z scores were computed for each of the P patients
resulting in a W×P matrix. Since W tests were carried out, we applied a multiple testing …

Importance The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …

Importance Detection of disease-associated variants in theBRCA1andBRCA2(BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives To …

There is growing interest in communicating clinically relevant DNA sequence findings to
research participants who join projects with a primary research goal other than the clinical …

Importance Most disorders caused by copy number variants (CNVs) display significant clinical
variability, often referred to as incomplete penetrance and variable expressivity. Genetic …

Health care delivery is increasingly influenced by the emerging concepts of precision health
and the learning health care system. Although not synonymous with precision health, …

Precision or personalized medicine through clinical genome and exome sequencing has
been described by some as a revolution that could transform healthcare delivery, yet it is …