标题： Bam-readcount -- 快速生成碱基对分辨率的序列指标 显示英文标题

标题： Bam-readcount -- rapid generation of basepair-resolution sequence metrics

摘要： Bam-readcount 是一个用于生成特定核苷酸位置测序数据的低级信息的工具。 最初设计用于帮助过滤基因组突变调用，其输出的指标对于变异检测工具和解决不同变异检测器之间的歧义非常有用。 此外，它在包括肿瘤进化、单细胞基因组学、气候变化生态学以及跟踪 SARS-CoV-2 社区传播在内的多个领域中得到了广泛的应用。 在此，我们报告该工具 1.0 版本的发布，其中增加了 CRAM 支持等其他改进。 它在宽松的 MIT 许可证下发布，并可在 https://github.com/genome/bam-readcount 获取。 显示英文摘要

摘要： Bam-readcount is a utility for generating low-level information about sequencing data at specific nucleotide positions. Originally designed to help filter genomic mutation calls, the metrics it outputs are useful as input for variant detection tools and for resolving ambiguity between variant callers . In addition, it has found broad applicability in diverse fields including tumor evolution, single-cell genomics, climate change ecology, and tracking community spread of SARS-CoV-2. Here we report on the release of version 1.0 of this tool, which adds CRAM support, among other improvements. It is released under a permissive MIT license and available at https://github.com/genome/bam-readcount.