The process of making a genetic diagnosis was considered time-consuming
and labor-intensive. The completion of Human Genome Project and the development
of next generation sequencing technology has been changing the face of genetic
diagnosis with the high-throughput analysis in timely and costly manners. It also
rapidly expands the knowledge in the medical genetics field. However, new challenges,
including variant interpretation, secondary findings and ethical issues, have arisen.
Here we discuss current platforms of NGS, basis of pathogenicity prediction,
approaches of NGS and their performance as well as ethical concerns.
Keywords: Clinical Sequencing, Next-generation Sequencing, Targeted Gene
Panel, Whole Exome Sequencing, Whole Genome Sequencing.
