Table 1. Experimental design and disease factors of the causative gene relevant to the statistical power of exome sequencing for RMMDs.

Factor	Symbol	Type	Definition	Impact to power when other factors held constant
Sample size	n	Design	Number of unrelated patients sequenced	increase
Locus heterogeneity	R	Disease	Proportion of sequenced patients responsible	decrease
Dominant/Recessive		Disease	Genetic link of gene to disease. Dominant = 1, recessive = 0	decrease
Relative gene length	w	Disease	Ratio of the length of the gene to the average gene length	decrease
Sensitivity of detecting mutations	Ps	Design	Probability of a true mutation in the captured region being identified after filtering	increase
Filtering efficiency	m	Design	Number of mutations identified after filtering	decrease
Genome size	M	Design	Total number of genes in the captured region	decrease