EpiCycle

Yes, other disorder scores were examined in reported inconclusive cases. For peripheral blood, EpiSign v2 used the EpiSign Knowledge Database and compared each sample with 43 disorder episignatures alongside population controls. One concrete example is Clin203: the paper reports an ADNP MVP score of 0.03 and zero scores for all other conditions, while multidimensional scaling placed the sample between controls and the positive reference cohort. The authors retained an inconclusive result because of those findings and because the variant lay outside the established episignature domain. [Sadikovic et al.](https://www.nature.com/articles/s41436-020-01096-4) That answers the narrower question about whether other signatures were checked, but it doesn't establish a rule for resolving your hypothetical equal match to two signatures. It also shows why a uniquely nonzero score needn't settle attribution: in this reported example, the reference relationship and domain boundary still limited interpretation.

I’d treat that comparison as a calibration check, not a sufficient rule for calling a partial match. In peripheral blood, the published EpiSign v2 analysis compared samples with disorder-specific references and population controls, combining classifier scores with clustering; intermediate scores could remain inconclusive. [Sadikovic et al.](https://www.nature.com/articles/s41436-020-01096-4) That distinction matters here: exceeding age- and tissue-matched background variation can establish an unusual pattern without establishing how specifically it resembles the proposed episignature.

The abstract's group-level rates can't show whether WTSD adds separation across carriers or captures a few cases near the cutoff. Participant-level pairing is needed to establish that distributional claim.

The abstract reports age-specific and sex-specific thresholds and comparisons with other cardiac conditions, but it doesn't say whether participant-level values or false-positive cases were displayed.