Table 1 Weighted 2 × 2 contingency table between query and a disease

From: Novel phenotype–disease matching tool for rare genetic diseases

 

\({\boldsymbol{D}}\)

\(\overline {\boldsymbol{D}}\)

Q

\(a = \mathop {\sum }\limits_{t \in (Q\mathop { \cap }\nolimits D)} {\mathrm{IC}}(t)\)

\(b = \mathop {\sum}\limits_{t \in \left( {Q \cap \bar D} \right)} {{\mathrm{IC}}(t)}\)

\(\overline {\boldsymbol{Q}}\)

\(c = \mathop {\sum }\limits_{t \in \left( {\overline Q \cap D} \right)} {\mathrm{IC}}(t)\)

\(d = \mathop {\sum }\limits_{t \in \left( {\overline Q \cap \bar D} \right)} {\mathrm{IC}}(t)\)

  1. The values in this Table are the counts of HPO terms weighted by their information content (IC). a: the count of terms in Q and D (true positive); b: the count of terms in Q but not in D (false positive); c: the count of terms in D but not in Q (false negative); and d: the count of terms not in Q and not in D (true negative)