The Mega2R package: R tools for accessing and processing genetic data in common formats.

Abstract

The standalone C++ Mega2 program has been facilitating data-reformatting for linkage and association analysis programs since 2000. Support for more analysis programs has been added over time. Currently, Mega2 converts data from several different genetic data formats (including PLINK, VCF, BCF, and IMPUTE2) into the specific data requirements for over 40 commonly-used linkage and association analysis programs (including Mendel, Merlin, Morgan, SHAPEIT, ROADTRIPS, MaCH/minimac3). Recently, Mega2 has been enhanced to use a SQLite database as an intermediate data representation. Additionally, Mega2 now stores bialleleic genotype data in a highly compressed form, like that of the GenABEL R package and the PLINK binary format. Our new Mega2R package now makes it easy to load Mega2 SQLite databases directly into R as data frames. In addition, Mega2R is memory efficient, keeping its genotype data in a compressed format, portions of which are only expanded when needed. Mega2R has functions that ease the process of applying gene-based tests by looping over genes, efficiently pulling out genotypes for variants within the desired boundaries. We have also created several more functions that illustrate how to use the data frames: these permit one to run the pedgene package to carry out gene-based association tests on family data, to run the SKAT package to carry out gene-based association tests, to output the Mega2R data as a VCF file and related files (for phenotype and family data), and to convert the data frames into GenABEL format. The Mega2R package enhances GenABEL since it supports additional input data formats (such as PLINK, VCF, and IMPUTE2) not currently supported by GenABEL. The Mega2 program and the Mega2R R package are both open source and are freely available, along with extensive documentation, from https://watson.hgen.pitt.edu/register for Mega2 and https://CRAN.R-project.org/package=Mega2R for Mega2R.