FDA

SEQC2 is the FDA-led community-wide Sequencing Quality Control (SEQC) consortium efforts to develop best practices with recommended standard analysis protocols and quality control metrics for whole genome sequencing and target gene sequencing technologies that will support regulatory science research and precision medicine.

This is the fourth project of MAQC, named Sequencing Quality Control Phase 2 (SEQC2). The primary objective is to develop standard analysis protocols and quality control metrics for fit-for-purpose use of NGS data to enhance regulatory science research and precision medicine. The project consists of three specific aims: (1) to develop quality metrics for reproducible NGS results from both whole genome sequencing (WGS) and targeted gene sequencing (TGS), (2) to benchmark bioinformatics methods for WGS and TGS towards the development of standard data analysis protocols, and (3) to assess the joint effects of key parameters affecting NGS results and interpretation for clinical application.

Goals:

(1) to develop quality metrics for reproducible NGS results from both whole genome sequencing (WGS) and targeted gene sequencing (TGS);

(2) to benchmark bioinformatics methods for WGS and TGS towards the development of standard data analysis protocols;

(3) to assess the joint effects of key parameters affecting NGS results and interpretation for clinical application.