next-generation sequencing (NGS)

Synonyms: massively parallel sequencing (MPS), high-throughput sequencing

Referring to several different technologies, all of which allow simultaneous sequence analysis of millions of DNA fragments. NGS can detect variations as small as a single-base substitution; depending on the methods used, NGS may detect copy number variants (CNVs). NGS is used primarily for multigene panels and genome, exome, and transcriptome sequencing. NGS may also be used for single-gene testing (e.g., targeting of a single gene on a mult-gene panel or sequencing of a large multiexon gene). Results from NGS may require confirmation by an alternative sequencing method.

Related terms: copy number variant; exome sequencing; genome sequencing; multigene panel; sequence analysis; single-nucleotide variant