Results from the Sequencing Quality Control 2 (SEQC2) initiative published
NGI contributes to SEQC2 initiative through ongoing participation in EATRIS-ERIC.
This week, a collection of results from the SEQC2 project were published in Nature Biotechnology, presenting reference materials, quality-control metrics, and datasets for NGS. In these studies, data from several laboratories, including NGI, are compared and the performance of different sequencing platforms and data analysis approaches assessed. NGI contributed to this initiative through Uppsala University’s ongoing participation in EATRIS-ERIC – European Advanced Translational Research Infrastructure in Medicine.
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: