A unique genealogical resource linked to phenotype data was created in Utah over 30 years ago. Here we review the history and content of this resource. In addition, we review three current methodologies used in conjunction with this resource to define the heritable contribution to phenotypes and to identify predisposition genes responsible for these phenotypes. Example analyses and high-risk pedigrees are presented. Finally we briefly review ways this resource, or others like it, may expand in future.
(c) 2007 S. Karger AG, Basel