Show simple item record

dc.creatorTang, Zheng-Zheng
dc.creatorBunn, Paul
dc.creatorTao, Ran
dc.creatorLiu, Zhouwen
dc.creatorLin, Dan-Yu
dc.date.accessioned2021-01-25T15:03:58Z
dc.date.available2021-01-25T15:03:58Z
dc.date.issued2017-02-14
dc.identifier.issn1471-2164
dc.identifier.issn1471-2164
dc.identifier.doihttp://dx.doi.org/10.34944/dspace/4935
dc.identifier.otherEL1MV (isidoc)
dc.identifier.other28196472 (pubmed)
dc.identifier.urihttp://hdl.handle.net/20.500.12613/4953
dc.description.abstractBACKGROUND: Meta-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. RESULTS: We developed a computationally efficient software program, PreMeta, to resolve the non-compatibility of the four software packages and to facilitate meta-analysis of large-scale sequencing studies in a consortium setting. PreMeta reformats the output files of study-level summary statistics generated by the four packages (text files produced by MASS and RAREMETAL, binary files produced by MetaSKAT, and R data files produced by seqMeta) and translates the summary statistics from one form to another, such that the summary statistics from any package can be used to perform meta-analysis in any other package. With this tool, consortium members are not required to use the same software for study-level analyses. In addition, PreMeta checks for allele mismatches, corrects summary statistics, and allows the rescaled inverse normal transformation to be performed at the meta-analysis stage by rescaling summary statistics. CONCLUSIONS: PreMeta processes summary statistics from the four packages to make them compatible and avoids the need to redo study-level analyses. PreMeta documentation and executable are available at: http://dlin.web.unc.edu/software/premeta .
dc.format.extent160-
dc.language.isoen
dc.relation.haspartBMC GENOMICS
dc.relation.isreferencedbySpringer Science and Business Media LLC
dc.rightsCC BY
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectMASS
dc.subjectMetaSKAT
dc.subjectRAREMETAL
dc.subjectseqMeta
dc.subjectSummary statistics
dc.subjectGene-based association tests
dc.titlePreMeta: a tool to facilitate meta-analysis of rare-variant associations
dc.typeArticle
dc.type.genreJournal Article
dc.type.genreResearch Support, N.I.H., Extramural
dc.relation.doi10.1186/s12864-017-3573-1
dc.ada.noteFor Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu
dc.creator.orcidTao, Rongjia|0000-0001-5058-4401
dc.date.updated2021-01-25T15:03:54Z
refterms.dateFOA2021-01-25T15:03:58Z


Files in this item

Thumbnail
Name:
PreMeta a tool to facilitate ...
Size:
1.004Mb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record

CC BY
Except where otherwise noted, this item's license is described as CC BY