The European Advanced Translational Research Infrastructure in medicine (EATRIS), a non-profit European Research Infrastructure Consortium, has over the last five years contributed to the US FDA-led DNA sequencing quality control consortium, SEQC2. The SEQC2 project provides resources to aid sequencing reproducibility and highlights factors that can guide platform and software choice.
This week, a collection of results from the SEQC2 project were published in Nature Biotechnology, presenting reference materials, quality-control metrics, and datasets for next generation sequencing (NGS). In two of these studies, data from several laboratories, including the SciLifeLab National Genomics Infrastructure (NGI), are compared and the performance of different sequencing platforms and data analysis approaches assessed.
Jessica Nordlund, Facility Director of the SciLifeLab NGI Uppsala unit, the SNP&SEQ Technology Platform, is one of the researchers behind the two studies and part of Uppsala University’s ongoing participation in the EATRIS-consortium.
The papers to which NGI contributed include:
Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing
Read more about EATRIS in their press release
Photo: NGI Uppsala