The number of human disease genes has dramatically increased over the past decade,
largely fueled by ongoing advances in sequencing technologies. In parallel, the number of …

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

Clinicians considering a genetic diagnosis have wide array of testing choices which now
includes genome sequencing. Although not a comprehensive test in its current form …

Purpose Genome sequencing (GS) is one of the most comprehensive assays that
interrogate single-nucleotide variants, copy number variants, mitochondrial variants, repeat …

During the last 25 years, a small number of meaningful DNA-based diagnostic tests have
been available to aid in the diagnosis and subsequent treatment of heritable disorders …

The expansion of genetic testing in the clinical laboratory is well under way, with many
clinically validated genetic tests already in use. As sequencing technology becomes more …

Next generation genomic sequencing (NGS) technologies—whole genome and whole
exome sequencing—are now cheap enough to be within the grasp of many health care …

This report of the Whole Genome Analysis group of the Association for Molecular Pathology
illuminates the opportunities and challenges associated with clinical diagnostic genome …

In the years since the first complete human genome sequence was reported, there has been
a rapid development of technologies to facilitate high-throughput sequence analysis of DNA …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …