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Custom background gene set for enrichment in variant-based analysis?

Hi,

I’m running GO / Reactome enrichment on genes derived from filtered VCF files (callable, high-confidence variants only). Since not all genes were testable, I used a custom background gene set (all callable genes) instead of the default genome-wide background.

Is this the correct / recommended approach for variant-based enrichment analyses?

Thanks!

clusterprofiler enrichment pathway analysis

1 answer

Since not all genes were testable

Whether this is the correct approach really depends on what you mean by this statement. You should include all genes within regions of the genome with enough coverage to call variants (including genes with no variation).

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