Next-Generation Sequencing In-Depth Focus 2018

In this In-Depth Focus:

• NGS: hunting mysterious ‘Dark Matter Genome’ towards rewriting the rules of human genetic diseases
  Next-generation sequencing (NGS) has revolutionised genomics research providing a wealth of genetic information of immense value to researchers. NGS technologies have been evolving over the last decade, leading to substantial improvement in understanding different biological systems from broader and deeper perspectives.
• NGS: enabling biomarker discovery at single-cell resolution
  Investigations using Next-Generation Sequencing (NGS), once the domain of well-funded labs, have now become mainstream in the hunt for biomarkers for various disorders – ranging from breast and colon cancers to cardiomyopathies, diabetes, congenital cataracts, liver diseases and mitochondrial disorders. The NHS Executive (NHSE) has recently announced the use of NGS-based diagnostic tests for a limited number of disorders, including certain types of cancers, starting from October 2018.