Using maximal segmental score in genome-wide association studies
學年 101
學期 1
出版（發表）日期 2012-09-01
作品名稱 Using maximal segmental score in genome-wide association studies
作品名稱（其他語言）
著者 Lin YC; Hsiao CL; Hsieh Ai-Ru; Lian IB; Fann Cathy SJ
單位
出版者
著錄名稱、卷期、頁數 Genetic epidemiology 36(6), p.594–601
摘要 Genome‐wide association studies (GWAS) have become the method of choice for identifying disease susceptibility genes in common disease genetics research. Despite successes in these studies, much of the heritability remains unexplained due to lack of power and low resolution. High‐density genotyping arrays can now screen more than 5 million genetic markers. As a result, multiple comparison has become an important issue especially in the era of next‐generation sequencing. We propose to use a two‐stage maximal segmental score procedure (MSS) which uses region‐specific empirical P‐values to identify genomic segments most likely harboring the disease gene. We develop scoring systems based on Fisher's P‐value combining method to convert locus‐specific significance levels into region‐specific scores. Through simulations, our result indicated that MSS increased the power to detect genetic association as compared with conventional methods provided type I error was at 5%. We demonstrated the application of MSS on a publicly available case‐control dataset of Parkinson's disease and replicated the findings in the literature. MSS provides an efficient exploratory tool for high‐density association data in the current era of next‐generation sequencing. R source codes to implement the MSS procedure are freely available at http://www.csjfann.ibms.sinica.edu.tw/EAG/program/programlist.htm.
關鍵字 association test;multiple testing;GWAS;maximal segmental score
語言 en_US
ISSN
期刊性質 國外
收錄於
產學合作
通訊作者
審稿制度 否
國別 TWN
公開徵稿
出版型式 ,電子版
相關連結

機構典藏連結 ( http://tkuir.lib.tku.edu.tw:8080/dspace/handle/987654321/117013 )