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Table 3 Assessment of Prenetics hereditary cancer panel test performance in detection and interpretation of single nucleotide variants and small insertions/deletions

From: Development and validation of next generation sequencing based 35-gene hereditary cancer panel

SpecimenTotal VariantsTrue PositivesFalse PositivesFalse NegativesSensitivitySpecificity
Cohort I: blinded group (n = 94)475847580699.9%100%a
Cohort II: positive reference samples (n = 53)626200100.0%100%a
TOTAL482048200699.9%100%a
  1. ano false positive was identified