Bioinformatics · 2013 · 42 citations · 9 references
Life SciencesBioinformaticsBiostatisticsGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingGenome SequencingGenome-wide Association StudiesRare Variant AnalysisRare Variant Association StudiesVariant AnalysisCommand-line InterfacesGenetic Association Meta-analysisMeta-analysis Of Association StudiesMeta-analysis Of Genetic StudiesMultivariate Rare Variant AnalysisRare Genetic VariantsRare Variant Meta-analysis
SUMMARY: MASS is a command-line program to perform meta-analysis of sequencing studies by combining the score statistics from multiple studies. It implements three types of multivariate tests that encompass all commonly used association tests for rare variants. The input files can be generated from the accompanying software SCORE-Seq. This bundle of programs allows analysis of large sequencing studies in a time and memory efficient manner. AVAILABILITY AND IMPLEMENTATION: MASS and SCORE-Seq, including documentations and executables, are available at http://dlin.web.unc.edu/software/. CONTACT: lin@bios.unc.edu.
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Testing for an Unusual Distribution of Rare Variants
Benjamin M. Neale, Manuel A. Rivas, Benjamin F. Voight et al. · PLoS Genetics · 2011 · 598 citations · Full text