PreMeta: a tool to facilitate meta-analysis of rare-variant associations

详细信息    查看全文

• 作者：Zheng-Zheng Tang ; Paul Bunn ; Ran Tao ; Zhouwen Liu ; Dan-Yu Lin
• 关键词：MASS ; MetaSKAT ; RAREMETAL ; seqMeta ; Summary statistics ; Gene ; based association tests
• 刊名：BMC Genomics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：1028KB
• 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
• 出版者：BioMed Central
• ISSN：1471-2164
• 卷排序：18

文摘

BackgroundMeta-analysis is essential to the discovery of rare variants that influence complex diseases and traits. Four major software packages, namely MASS, MetaSKAT, RAREMETAL, and seqMeta, have been developed to perform meta-analysis of rare-variant associations. These packages first generate summary statistics for each study and then perform the meta-analysis by combining the summary statistics. Because of incompatible file formats and non-equivalent summary statistics, the output files from the study-level analysis of one package cannot be directly used to perform meta-analysis in another package.