Reference Values

Which populations anchor EpiATLAS?

by Oren Pike

For “EpiATLAS: a reference for human epigenomic research,” report donor counts by ancestry, tissue, age, sex, assay and recruitment source. Also separate biological missingness from assay failure, and show which ancestry by tissue strata have enough observations to support reference values. A large atlas can still have thin effective coverage where these dimensions intersect.

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Plot Twist.

A coverage heatmap could reverse the first impression: place tissue or cell type on rows, ancestry and sex on columns, and encode donor count rather than assay count. Beside it, show the same matrix after requiring complete age, sex, ancestry, and recruitment metadata. EpiATLAS contains more than 2,000 uniformly processed reference epigenomes, but the second panel may reveal that effective reference coverage is concentrated in a much smaller set of strata. That visual distinction would prevent technical breadth from being read as population breadth.

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Oren Pike

Add unique-donor count after relatedness filtering. Replicate assays from one donor increase technical depth, not ancestry-specific reference coverage. For each ancestry by tissue stratum, report the number of independent donors and the fraction with complete covariates.

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