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首页> 外文期刊>Bioinformatics >SRMA: an R package for resequencing array data analysis.
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SRMA: an R package for resequencing array data analysis.

机译:SRMA:用于重新排序阵列数据分析的R包。

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摘要

SUMMARY: Sequencing by hybridization to oligonucleotides has evolved into an inexpensive, reliable and fast technology for targeted sequencing. Hundreds of human genes can now be sequenced within a day using a single hybridization to a resequencing microarray. However, several issues inherent to these arrays (e.g. cross-hybridization, variable probe/target affinity) cause sequencing errors and have prevented more widespread applications. We developed an R package for resequencing microarray data analysis that integrates a novel statistical algorithm, sequence robust multi-array analysis (SRMA), for rare variant detection with high sensitivity (false negative rate, FNR 5%) and accuracy (false positive rate, FPR 1x10(-5)). The SRMA package consists of five modules for quality control, data normalization, single array analysis, multi-array analysis and output analysis. The entire workflow is efficient and identifies rare DNA single nucleotide variations and structural changes such as gene deletions with high accuracy and sensitivity. AVAILABILITY: http://cran.r-project.org/, http://odin.mdacc.tmc.edu/~wwang7/SRMAIndex.html CONTACT: wwang7@mdanderson.org SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
机译:概述:通过与寡核苷酸杂交进行测序已发展成为一种廉价,可靠和快速的靶向测序技术。现在可以使用与重测序微阵列的单次杂交在一天内对数百个人类基因进行测序。但是,这些阵列固有的几个问题(例如交叉杂交,可变的探针/靶标亲和力)会导致测序错误,并阻止了更广泛的应用。我们开发了一种用于重新测序微阵列数据分析的R软件包,该软件包整合了一种新颖的统计算法,序列鲁棒多阵列分析(SRMA),可用于具有高灵敏度(假阴性率,FNR 5%)和准确性(假阳性率, FPR 1x10(-5))。 SRMA软件包包含五个模块,用于质量控制,数据标准化,单阵列分析,多阵列分析和输出分析。整个工作流程是高效的,并且可以高度准确和灵敏地识别罕见的DNA单核苷酸变异和结构变化,例如基因缺失。可用性:http://cran.r-project.org/,http://odin.mdacc.tmc.edu/~wwang7/SRMAIndex.html联系人:wwang7@mdanderson.org补充信息:补充数据可在在线生物信息学中获得。

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