ACMG clinical laboratory standards for next-generation sequencing.

ABSTRACT: Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual's near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laborator

SUBMITTER: Rehm HL 

PROVIDER: S-EPMC4098820 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature