摘要：the lack of suitable reference genomic material to enable a transparent cross-lab study of oncopanels inspired the SEQC2 Oncopanel Sequencing Working Group to develop four reference samples, sequenced with eight oncopanels at independent test laboratories with ultra-deep sequencing depth. this rich, publicly available dataset enabled performance assessment of the clinical applicability of oncopanels . In addition, this dataset present sample opportunities for developing specifc and robust bioinformatics pipelines and fne-tuning parameters for more accurate variant calling, investigating ideal sequencing depth for variant calling of a given minimum VaF and variant type, and also recommending best use cases for Unique Molecular Identifer (UMI) technology.
