Identity-by-descent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives

Table 5 Effect of IBD filtering and allele frequency thresholds on sensitivity

Results of our analysis were compared to the list of true causal genes provided after the conclusion of the GAW17 meeting. “Most cases” refers to the more liberal IBD filtering. “Max cases” refers to the strict IBD filtering that includes genes shared by the maximum number of case subjects in each replicate. “Min Size” refers to the minimum number of nuclear families that carried each candidate variant. TP% is the proportion of identified genes that were actually present on the list of true causal genes, corresponding to a typical measure of sensitivity.

ISSN: 1753-6561