Association rule mining for genome-wide association studies through Gibbs sampling

IF 3.4 Q2 COMPUTER SCIENCE, ARTIFICIAL INTELLIGENCE
Guoqi Qian, Pei-Yun Sun
{"title":"Association rule mining for genome-wide association studies through Gibbs sampling","authors":"Guoqi Qian, Pei-Yun Sun","doi":"10.1007/s41060-023-00456-y","DOIUrl":null,"url":null,"abstract":"Abstract Finding associations between genetic markers and a phenotypic trait such as coronary artery disease (CAD) is of primary interest in genome-wide association studies (GWAS). A major challenge in GWAS is the involved genomic data often contain large number of genetic markers and the underlying genotype-phenotype relationship is mostly complex. Current statistical and machine learning methods lack the power to tackle this challenge with effectiveness and efficiency. In this paper, we develop a stochastic search method to mine the genotype-phenotype associations from GWAS data. The new method generalizes the well-established association rule mining (ARM) framework for searching for the most important genotype-phenotype association rules, where we develop a multinomial Gibbs sampling algorithm and use it together with the Apriori algorithm to overcome the overwhelming computing complexity in ARM in GWAS. Three simulation studies based on synthetic data are used to assess the performance of our developed method, delivering the anticipated results. Finally, we illustrate the use of the developed method through a case study of CAD GWAS.","PeriodicalId":45667,"journal":{"name":"International Journal of Data Science and Analytics","volume":null,"pages":null},"PeriodicalIF":3.4000,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Data Science and Analytics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s41060-023-00456-y","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"COMPUTER SCIENCE, ARTIFICIAL INTELLIGENCE","Score":null,"Total":0}
引用次数: 0

Abstract

Abstract Finding associations between genetic markers and a phenotypic trait such as coronary artery disease (CAD) is of primary interest in genome-wide association studies (GWAS). A major challenge in GWAS is the involved genomic data often contain large number of genetic markers and the underlying genotype-phenotype relationship is mostly complex. Current statistical and machine learning methods lack the power to tackle this challenge with effectiveness and efficiency. In this paper, we develop a stochastic search method to mine the genotype-phenotype associations from GWAS data. The new method generalizes the well-established association rule mining (ARM) framework for searching for the most important genotype-phenotype association rules, where we develop a multinomial Gibbs sampling algorithm and use it together with the Apriori algorithm to overcome the overwhelming computing complexity in ARM in GWAS. Three simulation studies based on synthetic data are used to assess the performance of our developed method, delivering the anticipated results. Finally, we illustrate the use of the developed method through a case study of CAD GWAS.
基于Gibbs抽样的全基因组关联研究关联规则挖掘
发现遗传标记与冠状动脉疾病(CAD)等表型性状之间的关联是全基因组关联研究(GWAS)的主要兴趣。GWAS的一个主要挑战是所涉及的基因组数据通常包含大量遗传标记,并且潜在的基因型-表型关系大多很复杂。目前的统计和机器学习方法缺乏有效和高效应对这一挑战的能力。在本文中,我们开发了一种随机搜索方法来挖掘GWAS数据中的基因型-表型关联。新方法推广了已经建立的关联规则挖掘(ARM)框架,用于搜索最重要的基因型-表型关联规则,其中我们开发了一种多项Gibbs抽样算法,并将其与Apriori算法一起使用,以克服GWAS中ARM压倒性的计算复杂性。基于合成数据的三个仿真研究用于评估我们开发的方法的性能,并提供了预期的结果。最后,我们通过CAD GWAS的一个案例来说明所开发方法的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
6.40
自引率
8.30%
发文量
72
期刊介绍: Data Science has been established as an important emergent scientific field and paradigm driving research evolution in such disciplines as statistics, computing science and intelligence science, and practical transformation in such domains as science, engineering, the public sector, business, social sci­ence, and lifestyle. The field encompasses the larger ar­eas of artificial intelligence, data analytics, machine learning, pattern recognition, natural language understanding, and big data manipulation. It also tackles related new sci­entific chal­lenges, ranging from data capture, creation, storage, retrieval, sharing, analysis, optimization, and vis­ualization, to integrative analysis across heterogeneous and interdependent complex resources for better decision-making, collaboration, and, ultimately, value creation.The International Journal of Data Science and Analytics (JDSA) brings together thought leaders, researchers, industry practitioners, and potential users of data science and analytics, to develop the field, discuss new trends and opportunities, exchange ideas and practices, and promote transdisciplinary and cross-domain collaborations. The jour­nal is composed of three streams: Regular, to communicate original and reproducible theoretical and experimental findings on data science and analytics; Applications, to report the significant data science applications to real-life situations; and Trends, to report expert opinion and comprehensive surveys and reviews of relevant areas and topics in data science and analytics.Topics of relevance include all aspects of the trends, scientific foundations, techniques, and applica­tions of data science and analytics, with a primary focus on:statistical and mathematical foundations for data science and analytics;understanding and analytics of complex data, human, domain, network, organizational, social, behavior, and system characteristics, complexities and intelligences;creation and extraction, processing, representation and modelling, learning and discovery, fusion and integration, presentation and visualization of complex data, behavior, knowledge and intelligence;data analytics, pattern recognition, knowledge discovery, machine learning, deep analytics and deep learning, and intelligent processing of various data (including transaction, text, image, video, graph and network), behaviors and systems;active, real-time, personalized, actionable and automated analytics, learning, computation, optimization, presentation and recommendation; big data architecture, infrastructure, computing, matching, indexing, query processing, mapping, search, retrieval, interopera­bility, exchange, and recommendation;in-memory, distributed, parallel, scalable and high-performance computing, analytics and optimization for big data;review, surveys, trends, prospects and opportunities of data science research, innovation and applications;data science applications, intelligent devices and services in scientific, business, governmental, cultural, behavioral, social and economic, health and medical, human, natural and artificial (including online/Web, cloud, IoT, mobile and social media) domains; andethics, quality, privacy, safety and security, trust, and risk of data science and analytics
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信