教師資料查詢 | 類別: 期刊論文 | 教師: 謝璦如 HSIEH, AI-RU (瀏覽個人網頁)

標題:A non-threshold region-specific method for detecting rare variants in complex diseases
學年106
學期1
出版(發表)日期2017/11/30
作品名稱A non-threshold region-specific method for detecting rare variants in complex diseases
作品名稱(其他語言)
著者Hsieh Ai-Ru, Dao-Peng Chen, Amrita Sengupta Chattopadhyay, Ying-Ju Li, Chien-Ching Chang and Cathy SJ Fann
單位
出版者
著錄名稱、卷期、頁數PLoS One. 12(11), p.0188566
摘要A region-specific method, NTR (non-threshold rare) variant detection method, was developed—it does not use the threshold for defining rare variants and accounts for directions of effects. NTR also considers linkage disequilibrium within the region and accommodates common and rare variants simultaneously. NTR weighs variants according to minor allele frequency and odds ratio to combine the effects of common and rare variants on disease occurrence into a single score and provides a test statistic to assess the significance of the score. In the simulations, under different effect sizes, the power of NTR increased as the effect size increased, and the type I error of our method was controlled well. Moreover, NTR was compared with several other existing methods, including the combined multivariate and collapsing method (CMC), weighted sum statistic method (WSS), sequence kernel association test (SKAT), and its modification, SKAT-O. NTR yields comparable or better power in simulations, especially when the effects of linkage disequilibrium between variants were at least moderate. In an analysis of diabetic nephropathy data, NTR detected more confirmed disease-related genes than the other aforementioned methods. NTR can thus be used as a complementary tool to help in dissecting the etiology of complex diseases.
關鍵字
語言中文
ISSN
期刊性質國內
收錄於
產學合作
通訊作者
審稿制度
國別中華民國
公開徵稿
出版型式,電子版
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