Over the past 2 decades, advances in genetic testing methods and the growing availability
of such tests to the general population has been met with a shift in how physicians provide …

Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …

Introduction: The arrival of next-generation sequencing has brought about a revolution in
genomic analysis of disease. One of the major bottlenecks delaying uptake of whole exome …

Variants of uncertain significance represent a massive challenge to medical genetics.
Multiplexed functional assays, in which the functional effects of thousands of genomic …

In the traditional medical genetics setting, metabolic disorders, identified either clinically or
through biochemical screening, undergo subsequent single gene testing to molecularly …

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 …

Traditional genetic testing was based on Sanger sequencing analysis of a single gene at a
time. A clinician would generate a differential diagnosis after synthesizing the patient's …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …