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Prediction of disease- and non-disease-associated nsSNPs

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posted on 2008-07-25, 01:44 authored by Tammy M. K. Cheng, Yu-En Lu, Michele Vendruscolo, Pietro Lio', Tom L. Blundell

The test-set of disease-associated nsSNPs contains 506 nsSNPs that are covered in the OMIM database and can be mapped onto crystal structures in the PDB; the test-set of non-disease-associated nsSNPs contains 220 nsSNPs that are not covered in the OMIM database and can be mapped on crystal structures in the PDB. Sensitivity is defined as TP/(TP+FN); specificity is defined as TN/(TN+FP); PPV (positive predictive value) is defined as TP/(TP+FP); NPV (negative predictive value) is defined as TN/(TN+FN), where TP means the number of true positive predictions; FP means the number of false positive predictions; TN means the number of true negative predictions; FN means the number of false negative predictions.

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