Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

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 …

Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …

The completion of a reference genome sequence for humans took more than 200 scientists
more than a decade in a project that cost almost $3 billion to complete (International Human …

Clinical exome sequencing routinely identifies missense variants in disease-related genes,
but functional characterization is rarely undertaken, leading to diagnostic uncertainty,. For …

Next generation sequencing can be used to search for Mendelian disease genes in an
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …

Offering up-to-date, comprehensive coverage of disease progression, diagnosis,
management, and prognosis, Textbook of Pediatric Rheumatology is the definitive reference …

Evidence from family and twin-based studies provide strong support for a significant
contribution of maternal and fetal genetics to the timing of parturition and spontaneous …

Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …