SUMMARY Large scale genomic studies produce millions of sequence variants, generating datasets far too massive for manual inspection. To ensure variant and genotype data are consistent and accurate, it is necessary to evaluate variants prior to downstream analysis using quality control (QC) reports. Variant call format (VCF) files are the standard format for representing variant data; however, generating summary statistics from these files is not always straightforward. While tools to summarize variant data exist, they generally produce simple text file tables, which still require additional processing and interpretation. VariantQC fills this gap as a user friendly, interactive visual QC report that generates and concisely summarizes statistics from VCF files. The report aggregates and summarizes variants by dataset, chromosome, sample and filter type. The VariantQC report is useful for high-level dataset summary, quality control and helps flag outliers. Furthermore, VariantQC operates on VCF files, so it can be easily integrated into many existing variant pipelines. AVAILABILITY AND IMPLEMENTATION DISCVRSeq's VariantQC tool is freely available as a Java program, with the compiled JAR and source code available from https://github.com/BimberLab/DISCVRSeq/. Documentation and example reports are available at https://bimberlab.github.io/DISCVRSeq/.

中文翻译：

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VariantQC：用于评估变体的视觉质量控制报告。

小结大规模的基因组研究产生了数百万个序列变体，生成的数据集过于庞大，以至于无法进行人工检查。为确保变体和基因型数据一致且准确，有必要在使用质量控制（QC）报告进行下游分析之前评估变体。变体调用格式（VCF）文件是表示变体数据的标准格式。但是，从这些文件生成摘要统计信息并不总是那么简单。虽然存在汇总变体数据的工具，但它们通常会生成简单的文本文件表，但仍需要进行额外的处理和解释。VariantQC填补了这一空白，它是一种用户友好的交互式可视化QC报告，该报告可以生成并简洁地汇总来自VCF文件的统计信息。该报告按数据集，染色体，样本和过滤器类型。VariantQC报告可用于高级数据集摘要，质量控制，并有助于标记异常值。此外，VariantQC在VCF文件上运行，因此可以轻松地集成到许多现有的变量管道中。可用性和实现DISCVRSeq的VariantQC工具可作为Java程序免费获得，其已编译的JAR和源代码可从https://github.com/BimberLab/DISCVRSeq/获得。文档和示例报告可从https://bimberlab.github.io/DISCVRSeq/获得。以及可从https://github.com/BimberLab/DISCVRSeq/获得的已编译JAR和源代码。文档和示例报告可从https://bimberlab.github.io/DISCVRSeq/获得。以及可从https://github.com/BimberLab/DISCVRSeq/获得的已编译JAR和源代码。文档和示例报告可从https://bimberlab.github.io/DISCVRSeq/获得。