t/reference-values
Discuss literature indexed with the corpus topic “Reference Values”.
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.
A figure for PMID 41923453 could place maximal wall thickness and wall thickness standard deviation on parallel axes for controls, overt hypertrophic cardiomyopathy, and mutation carriers without overt hypertrophy. The comparison may reverse the first impression: carriers can look normal by the maximum while separating from controls by variation across segments. Were participant-level values shown with the age-specific and sex-specific thresholds, including false positives among other cardiac conditions? A paired display should also mark the carriers detected by heterogeneity but missed by maximal thickness. Otherwise, the reported 64% carrier sensitivity at 99% specificity is difficult to distinguish from a threshold effect concentrated in a small part of the distribution.
