Efficient digest of high-throughput sequencing data in a reproducible report

作     者：Zhang, Zhe Leipzig, Jeremy Sasson, Ariella Yu, Angela M. Perin, Juan C. Xie, Hongbo M. Sarmady, Mahdi Warren, Patrick V. White, Peter S. 

作者机构：Childrens Hosp Philadelphia Ctr Biomed Informat Philadelphia PA 19104 USA Childrens Hosp Philadelphia Div Oncol Philadelphia PA USA Univ Penn Dept Pediat Perelman Sch Med Philadelphia PA 19104 USA 

出 版 物：《BMC BIOINFORMATICS》 (英国医学委员会:生物信息)

年 卷 期：2013年第14卷第Sup11期

页      面：S3-S3页

核心收录：

学科分类：0710[理学-生物学] 0836[工学-生物工程] 10[医学] 

基　　金：NICHD NIH HHS [P30-HD026979] Funding Source: Medline 

主　　题：Read Count Sequencing Depth Sequencing Quality Alignment Program Bioconductor Project 

摘      要：Background: High-throughput sequencing (HTS) technologies are spearheading the accelerated development of biomedical research. Processing and summarizing the large amount of data generated by HTS presents a nontrivial challenge to bioinformatics. A commonly adopted standard is to store sequencing reads aligned to a reference genome in SAM (Sequence Alignment/Map) or BAM (Binary Alignment/Map) files. Quality control of SAM/BAM files is a critical checkpoint before downstream analysis. The goal of the current project is to facilitate and standardize this process. Results: We developed bamchop, a robust program to efficiently summarize key statistical metrics of HTS data stored in BAM files, and to visually present the results in a formatted report. The report documents information about various aspects of HTS data, such as sequencing quality, mapping to a reference genome, sequencing coverage, and base frequency. Bamchop uses the R language and Bioconductor packages to calculate statistical matrices and the Sweave utility and associated LaTeX markup for documentation. Bamchop s efficiency and robustness were tested on BAM files generated by local sequencing facilities and the 1000 Genomes Project. Source code, instruction and example reports of bamchop are freely available from https://***/CBMi-BiG/bamchop. Conclusions: Bamchop enables biomedical researchers to quickly and rigorously evaluate HTS data by providing a convenient synopsis and user-friendly reports.