Advanced Techniques in Biology & Medicine
Open Access

Sequencing Innovations

The biological sciences are being transformed by the adoption of next-generation sequencing (NGS). Researchers now perform a wide variety of applications and study biological systems at a level never before possible by taking advantage of NGS’s ultra-high throughput, scalability, and speed. Using innovative sample preparation and data analysis, scientists now have at their disposal more options for applications, including RNA sequencing to examine new RNA variants, rapidly sequencing whole genomes and more precisely targeting genomic regions. The innovation driven by NGS in 2018 will continue in 2019, offering great promise in a variety of areas. In 2018, researchers began to develop programs to make diagnostic testing more easily available for patients enrolled in the public health plans of the Centers for Medicare and Medicaid Services (CMS), opening up its benefits to potentially hundreds of patients. New genetic data analysis such as that from the Cancer Genome Atlas is revolutionizing the deep analysis of various cancer types and driving the development of precision medicine. Funding from a wide variety of sources will continue to support programs -- to improve whole genome sequencing, to release the first FDA-designated public genetic variants repository and to introduce new processes that drive down the cost of sequencing -- to name just a few remarkable advances in the field.