Dive deeper into this product!

For development and production samples, quality control (QC) of whole genome sequencing (WGS) results can be achieved through a range of tools that compute metrics from FASTQ, BAM, and/or VCF files. Recommendations on which metrics to include in routine QC have been discussed in published guidelines and continue to be actively developed, but standardised definitions and implementations of recommended QC metrics have yet to be addressed.

The WGS Quality Control Standards is a set of key quality control metrics and their detailed definitions. These can be used as the basis for standardised guidelines for reporting quality control metrics. Creating a common framework for QC of WGS results is needed to ensure that data generation adheres to published guidelines, and in turn, establishes confidence in the data quality and facilitates the exchange of results across initiatives. Work will complement existing guidelines by also providing a new file format/schema to make it easier to report QC metric outputs, tools for calculating them, and benchmarking resources that would aid in the interpretation and monitoring of results.