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 …

INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …

Purpose: Geisinger Health System (GHS) provides an ideal platform for Precision Medicine.
Key elements are the integrated health system, stable patient population, and electronic …

… W Andrew Faucett12, … and Behavioral Science, University of Washington, Seattle, Washington,
USA … Children's Research Institute & University of Washington, Seattle, Washington, USA …

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 …

… Mr Faucett reported receiving grants from NIH during the conduct of the study. Dr Ledbetter
reported receiving grants from Regeneron Biopharmaceuticals during the conduct of the …

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 …