{bigsnpr} is an R package for the analysis of massive SNP arrays, primarily designed for human genetics. It enhances the features of package {bigstatsr} for the purpose of analyzing genotype data.
Note that most of the algorithms of this package don’t handle missing values. You can use snp_fastImpute() (taking a few hours for a chip of 15K x 300K) and snp_fastImputeSimple() (taking a few minutes) to impute missing values of genotyped variants.
New! Package {bigsnpr} now provides functions that directly work on bed files with a few missing values. See new paper “Efficient toolkit implementing..”.
In R, run
This package reads bed/bim/fam files (PLINK preferred format) using function snp_readBed(). Before reading into this package’s special format, quality control and conversion can be done using PLINK, which can be called directly from R using snp_plinkQC and snp_plinkKINGQC.
This package now also reads UK Biobank BGEN files using function snp_readBGEN().
This package uses a class called bigSNP for representing SNP data. A bigSNP object is just a list with some elements:
genotypes: A FBM.code256. Rows are samples and columns are SNPs. This stores genotypes calls or dosages (rounded to 2 decimal places).fam: A data.frame containing some information on the SNPs.map: A data.frame giving some information on the individuals.New! Package {bigsnpr} now provides functions that directly work on bed files with a few missing values. See new paper “Efficient toolkit implementing..”.
Polygenic scores are one of the main focus of this package. There are 3 main methods currently available:
Penalized regressions with individual-level data (see paper and tutorial)
Clumping and Thresholding (C+T) and Stacked C+T (SCT) with summary statistics and individual level data (see paper and tutorial).
Multiple imputation for GWAS (https://doi.org/10.1371/journal.pgen.1006091).
More interactive (visual) QC.
You can request some feature by opening an issue.
How to make a great R reproducible example?
Please open an issue if you find a bug.
If you want help using {bigstatsr}, please open an issue on {bigstatsr}’s repo or post on Stack Overflow with the tag bigstatsr.
I will always redirect you to GitHub issues if you email me, so that others can benefit from our discussion.
Privé, Florian, et al. “Efficient analysis of large-scale genome-wide data with two R packages: bigstatsr and bigsnpr.” Bioinformatics 34.16 (2018): 2781-2787.
Privé, Florian, et al. “Efficient implementation of penalized regression for genetic risk prediction.” Genetics 212.1 (2019): 65-74.
Privé, Florian, et al. “Making the most of Clumping and Thresholding for polygenic scores.” The American Journal of Human Genetics 105.6 (2019): 1213-1221.
Privé, Florian, et al. “Efficient toolkit implementing best practices for principal component analysis of population genetic data.” Bioinformatics (2020).
Privé, Florian, et al. “LDpred2: better, faster, stronger.” BioRxiv (2020).