Comparison of variant classification algorithms incorporating clinical and family history for breast and ovarian cancer.
Pathogenic mutations are more likely to occur in high-risk individuals while benign variants are unrelated to personal and family history.
We compared two existing statistical approaches for incorporating family history in models predicting variant pathogenicity: logistic regression and family history weighting algorithm.
Our data show that combining the strength of logistic regression model and variant-specific thresholds may improve variant pathogenicity prediction based on personal and family history.
Authors: Jacob Clifford; Mary Helen Black; Aaron Elliott; Hsiao-Mei Lu; Shuwei Li