Background With the efficiency and the decreasing cost of next-generation sequencing, the
technology is being rapidly introduced into clinical and public health laboratory practice …

The development of novel technologies for high-throughput DNA sequencing is having a
major impact on our ability to measure and define normal and pathologic variation in …

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect∼ 300
individuals per million births. With the exception of hemophilia and von Willebrand disease …

High-throughput sequencing has dramatically improved our ability to determine and
diagnose the underlying causes of human disease. The use of whole-genome and whole …

Venous thrombosis is a common cardiovascular disease in Caucasians affecting 1 out of
1000 individuals and strongly associates with pulmonary embolism (3). Beyond other …

Next-generation sequencing (NGS) technology has been moving at an arguably
unprecedented pace compared with any other molecular genetics technology to have …

Genomic sequencing is a powerful and increasingly cost-effective alternative to current
genetic tests and will continue to grow in clinical utility as more of the genome is understood …

Sequencing a patient's complete genome can cost as little as tests that target specific genes,
and in a handful of cases it has led to a life-changing diagnosis. No wonder the technology …

Next-generation sequencing and genome-wide association studies represent powerful tools
to identify genetic variants that confer disease risk within populations. On their own …

Next-generation sequencing technologies allow for rapid and inexpensive large-scale
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …