Concerns about genetic privacy affect individuals' willingness to accept genetic testing in
clinical care and to participate in genomics research. To learn what is already known about …

The development of high-throughput, data-intensive biomedical research assays and
technologies has created a need for researchers to develop strategies for analyzing …

As with all fields of medicine, the first step toward medical management of genetic disorders
is obtaining an accurate diagnosis, which often requires testing at the molecular level …

Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …

Background Whole-exome sequencing (WES) has become an efficient diagnostic test for
patients with likely monogenic conditions such as rare idiopathic diseases or sudden …

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes
contributing to specific phenotypes and single gene defects having multiple clinical …

Comprehensive and accurate detection of variants from whole-genome sequencing (WGS)
is a strong prerequisite for translational genomic medicine; however, low concordance …

There is an increasing demand for supporting the adoption of rapid whole-genome
sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost …

Purpose: Dysmorphology syndromes are among the most common referrals to clinical
genetics specialists. Inability to match the dysmorphology pattern to a known syndrome can …

Purpose: Diagnostic exome sequencing (DES) is now a commonly ordered test for
individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for …