How many cases of disease in a pedigree imply familial disease?

ABSTRACT: The ability to perform whole-exome and, increasingly, whole-genome sequencing on large numbers of individuals has led to increased efforts to identify rare genetic variants that affect the risk of both common and rare diseases. In such applications, it is important to identify families that are segregating the rare variants of interest. For rare diseases or rare familial forms of common diseases, pedigrees with multiple affected members are clearly harbouring risk variants. For more common diseases, however, it may be unclear whether a family with a few affected members is segregating a familial disease, is the result of multiple sporadic cases, or is a mixture of familial cases and phenocopies. We provide calculations for the probability that a family is harbouring familial disease, prese

SUBMITTER: Dudbridge F 

PROVIDER: S-EPMC5813157 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature