文章基本信息

标题：Ultra-deep multi-oncopanel sequencing of benchmarking samples with a wide range of variant allele frequencies
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作者：Binsheng Gong ; Rebecca Kusko ; Wendell Jones 等
期刊名称：Scientific Data
电子版ISSN：2052-4463
出版年度：2022
卷号：9
期号：1
页码：1-9
DOI：10.1038/s41597-022-01359-6
语种：English
出版社：Nature Publishing Group
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.