Abstract
Next-generation sequencing (NGS) has enabled analysis of rare and uncommon variants in large study cohorts. A common strategy to overcome these low frequencies and/or small effect sizes relies on collapsing strategies, i.e. to bin variants within genes/regions. Several tools are now available for advanced statistical analyses; however, tools to perform basic tasks such as obtaining allelic counts within defined gene/region boundaries are unavailable or require complex coding. GARCOM (“Gene And Region Count Of Mutations”) library, an open-source freely available package in R language, returns a matrix with allelic counts within genes/regions per sample. GARCOM accepts input data in PLINK or VCF formats, with additional options to subset data for refined analyses.
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