预测癌症进化过程中的DNA突变

J. Martínez, Nelson Lopez-Jimenez, Tao Meng, S. S. Iyengar
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引用次数: 1

摘要

生物系统本质上是复杂的信息处理系统。它们生理上的复杂性限制了它们行为假说的形成和检验。我们的目标是利用急性髓性白血病(AML)患者纵向研究的已发表数据来测试计算框架,这些患者来自正常和恶性组织的DNA在不同时间点进行了NGS分析。通过在复发前处理测序数据,我们通过预测在复发时发生突变的基因组区域来测试我们的框架,然后通过将我们的结果与显示突变的实际区域(在复发时通过基因组测序发现)进行比较来测试我们的框架。经过详细的统计分析,得出的相关系数(所提出框架与实际数据的匹配程度)在95%置信区间为0.9816±0.009。我们提出的框架的这种高性能为生物信息学研究人员和临床医生开辟了新的研究机会。
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Predicting DNA mutations during cancer evolution
Bio-systems are inherently complex information processing systems. Their physiological complexities limit the formulation and testing of a hypothesis for their behaviour. Our goal here was to test a computational framework utilising published data from a longitudinal study of patients with acute myeloid leukaemia (AML), whose DNA from both normal and malignant tissues were subjected to NGS analysis at various points in time. By processing the sequencing data before relapse time, we tested our framework by predicting the regions of the genome to be mutated at relapse time and, later, by comparing our results with the actual regions that showed mutations (discovered by genome sequencing at relapse time). After a detailed statistical analysis, the resulting correlation coefficient (degree of matching of proposed framework with real data) is 0.9816 ± 0.009 at 95% confidence interval. This high performance from our proposed framework opens new research opportunities for bioinformatics researchers and clinical doctors.
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来源期刊
International Journal of Bioinformatics Research and Applications
International Journal of Bioinformatics Research and Applications Health Professions-Health Information Management
CiteScore
0.60
自引率
0.00%
发文量
26
期刊介绍: Bioinformatics is an interdisciplinary research field that combines biology, computer science, mathematics and statistics into a broad-based field that will have profound impacts on all fields of biology. The emphasis of IJBRA is on basic bioinformatics research methods, tool development, performance evaluation and their applications in biology. IJBRA addresses the most innovative developments, research issues and solutions in bioinformatics and computational biology and their applications. Topics covered include Databases, bio-grid, system biology Biomedical image processing, modelling and simulation Bio-ontology and data mining, DNA assembly, clustering, mapping Computational genomics/proteomics Silico technology: computational intelligence, high performance computing E-health, telemedicine Gene expression, microarrays, identification, annotation Genetic algorithms, fuzzy logic, neural networks, data visualisation Hidden Markov models, machine learning, support vector machines Molecular evolution, phylogeny, modelling, simulation, sequence analysis Parallel algorithms/architectures, computational structural biology Phylogeny reconstruction algorithms, physiome, protein structure prediction Sequence assembly, search, alignment Signalling/computational biomedical data engineering Simulated annealing, statistical analysis, stochastic grammars.
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