参 考 文 献

[1] Sanger, F. & Nicklen, S. DNA sequencing with chain-terminating[P]. 74, 5463–5467 (1977).
[2] Struster SC.Next-generation sequencing transform today’s biology[J].Nat Methods.5(1):16-18 (2008).

[3] 解增言,林俊华,谭军,舒坤贤. DNA测序技术的发展历史与最新进展[J]. 生物技术通报. 2010(08).
[4] Rusk N. Cheap third-generation sequecing[J]. Nature. 6(4): 244-245 (2011).
[5] J. Craig Venter, Mark D. Adams, Eugene W. Myers. The Sequence of the Human Genome[J]. Science, 2001, 291(5507): 1304-1351.
[6] 高通量DNA测序技术及其应用进展[J]. 于聘飞,王英,葛芹玉. 南京晓庄学院学报 2010-05-20 (05).
[7] 衣春翔. 哈工大牵头启动十万人基因组计划[N]. 黑龙江日报. 2017-12-29 (003).
[8] Jeffrey Dean, Sanjay Ghemawat. MapReduce: Simplified Data Processing on Large Clusters[C]. America:Google, Inc., 2004. 137-149.
[9] Garry Turkington. Hadoop基础教程[M]. 张治起译. 人民邮电出版社 第1版, 2014.
[10] 新一代基因组测序-通往个性化医疗[M]. 贾尼特编著,薛庆中等译. 科学出版社, 2012.
[11] 蔡斌, 陈湘萍. Hadoop 技术内幕:深入解析Hadoop Common 和HDFS 架构设计与实现原理[M]. 机械工业出版社, 2013.
[12] 董西成. Hadoop技术内幕:深入解析MapReduce架构设计与实现原理[M]. 机械工业出版社, 2013.
[13] 董西成. Hadoop技术内幕:深入解析YARN架构设计与实现原理[M]. 机械工业出版社, 2013.
[14] 陈浩锋. 新一代基因组测序技术[M]. 科学出版社, 2017.
[15] Richard M, Leggett. Sequencing quality assessment tools to enable data-driven informatics for high throughput genomics[R]. US National Library of Medicine, 2013. 4-28.
[16] FastQC. The FastQC Toolkit[EB/OL]. https://www.bioinformatics.babraham.ac.uk/projects/fastqc/, 2018.
[17] Li H1, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform[R]. US National Library of Medicine, 2009.
[18] BioITeam. Burrows-Wheeler Aligner[EB/OL]. https://github.com/lh3/bwa, 2018.
[19] Heng, Li. SAMtools[EB/OL]. http://samtools.sourceforge.net/, 2018.
[20] BroadInstitute. The Genome Analysis Toolkit[EB/OL]. https://software.broadinstitute.org/gatk/, 2018.
[21] Joseph M. Caswell. Equilibrium and Association Analyses for Single Biallelic SNPs with Multiple Genetic Models: A SAS Macro with Simulated Data Examples[D]. Northeast Cancer Centre.
[22] Mohammad Shabbir Hasan, Xiaowei Wu, Layne T. Watson & Liqing Zhang. UPS-indel: a Universal Positioning System for Indels[J]. nature, 2017.
[23] wikipedia. FASTA format[EB/OL]. https://en.wikipedia.org/wiki/FASTA_format, 2018.
[24] wikipedia. FASTQ format[EB/OL]. https://en.wikipedia.org/wiki/FASTQ_format, 2018.
[25] Samy Ghoneimy, Samir Abou El-Seoud. A MapReduce Framework for DNA Sequencing Data Processing[D]. British University 2017.
[26] Apache. Apache FreeMarker™[EB/OL]. https://freemarker.apache.org/, 2018.
[27] Mahmoud Parsian. 数据算法(Hadoop/Spark大数据处理技巧)[M]. 苏金国,杨健康等译. 清华大学出版社 第四版 2016.
[28] Tom White. Hadoop权威指南[M]. 王海,华东,刘喻,吕粤海译. 清华大学出版社 第四版 2017.
[29] Apache. Apache MRUNIT™[EB/OL]. http://mrunit.apache.org/, 2018.
[30] The sratoolkit Toolkit [EB/OL]. https://github.com/ncbi/sra-tools/wiki/Downloads, 2018.