The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance.

ABSTRACT: Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used in NGS quality evaluation: depth of coverage, base quality and mapping quality. To provide consistency and transparency in the utilisation of these metrics we present the Quality Sequencing Minimum (QSM). The QSM defines the minimum quality requirement a laboratory has selected for depth of coverage (C), base quality (B) and mapping quality (M) and can be applied per base, exon, gene or other genomic region, as appropriate. The QSM format is CX_BY(P _Y)_MZ(P _Z). X is the parameter threshold for C, Y the parameter threshold for B, P _Y the pe

SUBMITTER: Mahamdallie S 

PROVIDER: S-EPMC6020721 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature