Additional file 7: of Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

Calculating P-values for findings from previous whole-exome or targeted sequencing studies. The parameter f denotes the proportion of individuals in the 1000 Genomes Project dataset who have a rare variant at least as severe as the identified variants. A MAF threshold labeled exclusion refers to studies that did not filter by a given threshold and excluded variants based on their presence in public databases such as dbSNP; in such cases, results were calculated using a MAF threshold of 0.1%. Abbreviations: MAF, minor allele frequency; AD, autosomal dominant; AR, autosomal recessive; XL, X-linked; nonsyn, nonsynonymous variant; LOF, loss-of-function variant; Het, heterozygous; Hom, homozygous; CHet/Hom, compound heterozygous or homozygous. (XLS 44 kb)