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臺灣醫學

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篇名 大數據於基因體學研究之應用
卷期 20:6
並列篇名 The Applications of Big Data Analysis in Genomic Research
作者 盧子彬李建樂張耀尹謝嘉珊邱鉦喬賴亮全蔡孟勳莊曜宇
頁次 609-619
關鍵字 high-throughput genomic datamicroarraynext-generation sequencing 因體資料微陣列次世代定序技術TSCI
出刊日期 201611
DOI 10.6320/FJM.2016.20(6).7

中文摘要

近二十年來隨著高通量基因體實驗技術快速發展,取得每個人的基因資訊所需之時間與經費已大 幅下降,因而基因資訊已成為當今生物醫學研究及臨床照護上必須考量的重要因素。回顧基因體實驗技 術的發展歷史,微陣列及次世代定序技術為最重要的兩個標竿,因此,本文將先就實驗技術的基本原理 進行介紹,進而說明在面對如此龐大的大數據基因體資料時可能遭遇的問題及分析方式,最終透過實際 的研究案例說明大數據基因體資料的重要性及未來之應用方向。

英文摘要

With the advancement of high-throughput genomic technologies in the past two decades, the time consumption and cost for obtaining the genetic information of each individual has dropped substantially. Therefore, the genetic information has become an important feature that must be considered in both biomedical studies and clinical care. Among the genomic technologies, microarray and next-generation sequencing (NGS) are the two most important ones. In this article, we introduce the basic concepts of the experimental procedures of microarray and NGS first. Subsequently, we focus on the challenges of handling big data generated from genomic analysis, and discuss the possible solutions of different analysis pipelines. Lastly, the importance and potential applications of the high-throughput genomic data are demonstrated by several studies.

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