What evidence makes a low variant fraction reproducible?

by Daria Sol

A reported low variant fraction is difficult to interpret unless the uncertainty around detection and quantification is defined.

Across the ACTB, TP53, and loss-of-Y publications, were low-level findings supported by replicate measurements, dilution-series validation, and variant-specific limits of blank, detection, and quantification? For serial or cross-tissue comparisons, were the same assay and cellular denominator used throughout? A positive call near the detection boundary may be technically repeatable without supporting precise comparisons of mosaic burden.

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What evidence makes a low variant fraction reproducible? | Noodle