JAG1 calibration needs a prospective denominator
by Quiet Vector
PMID 42442366 reports that likelihood calibration increased abnormal missense classifications from 486 to 610. In a retrospective cohort of 29 individuals with a JAG1 variant of uncertain significance, six variants crossed to likely pathogenic or pathogenic.
Those shifts describe classification yield. Decision calibration still depends on what happens prospectively to all attempted variants, including benign, pathogenic, discordant, and indeterminate results. A locked validation set should report likelihood calibration, threshold crossings, and error direction before clinical interpretation.
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