Abstract
Summary: RAREMETAL is a computationally efficient tool for meta-analysis of rare variants genotyped using sequencing or arrays. RAREMETAL facilitates analyses of individual studies, accommodates a variety of input file formats, handles related and unrelated individuals, executes both single variant and burden tests and performs conditional association analyses.Availability and implementation: http://genome.sph.umich.edu/wiki/RAREMETAL for executables, source code, documentation and tutorial.Contact: sfengsph@umich.edu or goncalo@umich.edu
Highlights
In genomewide association studies, meta-analysis has been key in establishing association between common variants and complex traits (Willer et al, 2010)
The key idea in our implementation is that gene-level test statistics can be reconstructed from single variant score statistics and that, when the linkage disequilibrium relationships between variants are known, the distribution of gene-level statistics can be derived to evaluate significance
We have tried to complement these tools by adding support for modeling of related individuals and the X chromosome, additional QC statistics, directly using compressed files to facilitate sharing and implementing conditional analyses to disentangle the contributions of nearby variants, common or rare
Summary
Meta-analysis has been key in establishing association between common variants and complex traits (Willer et al, 2010). Recent advances in exome sequencing and the development of exome genotyping arrays are enabling complex disease studies to explore association between rare variants of clear functional consequence and complex traits. For these rare variants, single variant tests can lack power, and association tests that group rare variants by gene or functional unit are favored (Li and Leal, 2008; Lin and Tang, 2011; Madsen and Browning, 2009; Price et al, 2010; Wu et al, 2011). Our tool enables individual studies to account for study-specific covariates as well as family and population structure It generates summaries of linkage disequilibrium information that allow association tests for groups of rare variants during meta-analysis
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
