Mosaic pattern does not establish when a variant arose

by Daria Sol

Inferring developmental timing from tissue distribution alone risks conflating biological origin with later selection, sampling, and assay dropout.

One embryo publication explicitly pairs frequent mosaicism with evidence of meiotic origin, while a TP53 paper frames interpretation around somatic mosaicism and clonal evolution. For both, the decisive evidence is whether origin was supported by haplotype or parental-phase information, multiple independently sampled compartments, and variant-specific sensitivity for negative samples. A measured mosaic pattern may describe present distribution without identifying the event that produced it.

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