From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project

Abstract

One of the early decisions in what became the Human Genome Project was to recruit families that would serve as a reference set, thereby focusing efforts to create human genetic maps on the same sets of DNA samples. The families recruited from Utah provided the most widely used samples in the Centre d'Etudes du Polymorphisme Humain (CEPH) set, were instrumental in generating human linkage maps, and often serve as the benchmark for establishing allele frequency when a new variant is identified. In addition, the immortalized cell lines created from the peripheral blood cells of these subjects are a broadly used resource and have yielded insights in many areas, from the genetics of gene expression to the regulation of telomeres. More recently, these families were recontacted and underwent extensive, protocol-based evaluation to create a phenotypic database, which will aid in the study of the genetic basis of quantitative traits. As with the earlier efforts, this project involved collaborations among many investigators and has yielded insights into multiple traits.