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Alfred:用于长读和短读测序的交互式多样本 BAM 比对统计、特征计数和特征注释。

Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing.

机构信息

Genomics Core Facility, European Molecular Biology Laboratory (EMBL), Meyerhofstrasse 1, Heidelberg, Germany.

Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Meyerhofstrasse 1, Heidelberg, Germany.

出版信息

Bioinformatics. 2019 Jul 15;35(14):2489-2491. doi: 10.1093/bioinformatics/bty1007.

Abstract

SUMMARY

Harmonizing quality control (QC) of large-scale second and third-generation sequencing datasets is key for enabling downstream computational and biological analyses. We present Alfred, an efficient and versatile command-line application that computes multi-sample QC metrics in a read-group aware manner, across a wide variety of sequencing assays and technologies. In addition to standard QC metrics such as GC bias, base composition, insert size and sequencing coverage distributions it supports haplotype-aware and allele-specific feature counting and feature annotation. The versatility of Alfred allows for easy pipeline integration in high-throughput settings, including DNA sequencing facilities and large-scale research initiatives, enabling continuous monitoring of sequence data quality and characteristics across samples. Alfred supports haplo-tagging of BAM/CRAM files to conduct haplotype-resolved analyses in conjunction with a variety of next-generation sequencing based assays. Alfred's companion web application enables interactive exploration of results and comparison to public datasets.

AVAILABILITY AND IMPLEMENTATION

Alfred is open-source and freely available at https://tobiasrausch.com/alfred/.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

摘要

摘要

协调大规模第二代和第三代测序数据集的质量控制(QC)对于实现下游计算和生物学分析至关重要。我们介绍了 Alfred,这是一种高效且功能多样的命令行应用程序,能够以读取组感知的方式计算各种测序分析和技术的多样本 QC 指标。除了 GC 偏倚、碱基组成、插入大小和测序覆盖度分布等标准 QC 指标外,它还支持单倍型感知和等位基因特异性特征计数和特征注释。Alfred 的多功能性允许在高通量环境中轻松集成流水线,包括 DNA 测序设施和大型研究计划,从而能够跨样本持续监测序列数据质量和特征。Alfred 支持 BAM/CRAM 文件的单倍型标记,以结合各种基于下一代测序的分析进行单倍型解析分析。Alfred 的配套 Web 应用程序可实现结果的交互式探索,并与公共数据集进行比较。

可用性和实现

Alfred 是开源的,可在 https://tobiasrausch.com/alfred/ 免费获得。

补充信息

补充数据可在 Bioinformatics 在线获得。

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