Thank you!
Hey Folks,
Currently trying to do a meta analysis of some GWAS data but having trouble with the data qc. For example, some have RSIDS and others dont. Most do not have INFO scores either. I was wondering what tool would be best for qcing our data. We tried gwasinspector and it wasn't really working so anything would be helpful!
The files are just sumstats and there's liftover issues as well. We want to standardize based on rsids to get around that
Thank you
1 answer
Hey,
For QC'ing GWAS sumstats with inconsistent RSIDs and missing INFO scores, plus liftover issues, I'd recommend the MungeSumstats R package from Bioconductor. It's robust, actively maintained (latest updates in 2024), and excels at standardizing sumstats across formats while handling these exact problems.
MungeSumstats can infer RSIDs from chromosomal positions and alleles using built-in references like SNPlocs, harmonize alleles, and perform liftover between builds (e.g., hg19 to hg38) via integration with rtracklayer. It also applies QC filters based on available columns, like allele frequency or p-values, even without INFO.
Install it like this:
if (!require("BiocManager", quietly = TRUE))
install.packages("BiocManager")
BiocManager::install("MungeSumstats")
Then, run formatted <- MungeSumstats::munge_sumstats(path = "your_sumstats.txt", ref_genome = "GRCh37") – adjust parameters for RSID mapping and liftover as needed. Check the vignette for details: https://bioconductor.org/packages/release/bioc/vignettes/MungeSumstats/inst/doc/MungeSumstats.html
If you need a more automated pipeline, consider tidyGWAS (new in 2024), which separates validation from QC and supports harmonization.
This approach should standardize everything on RSIDs and sidestep liftover pitfalls better than GWASinspector.
Kevin
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