Our abstract The Utah Genome Project has been accepted for a talk at the Biology of Genomes meeting in CSHL, May 6-10th 2014. Mark Yandell will present.
The Utah Genome Project (UGP) is an intramural, multi-million dollar effort to improve patient care, and facilitate research into undiagnosed diseases. Unlike the other large-scale sequencing projects currently underway in the US and the UK, the UGP is a pedigree-based sequencing effort, and is centered on the Utah Population Database (UPDB), the world’s largest resource for tracking diseases in families. The UGP’s analysis pipeline features a number of novel tools that enable integrated computation on personal genome/exome sequences, patient phenotype descriptions and pedigrees in a robust statistical framework. These tools include pedigree-VAAST (pVAAST), a tool that expands VAAST to incorporate family data, and Phevor, a tool that dynamically combines pVAAST results with machine-readable patient phenotype descriptions and biomedical ontologies such as GO to further improve diagnostic power. We will describe the UGP analysis pipeline, and present actual clinical cases illustrating how rigorously combining pedigree-based analyses with phenotype information is allowing us to identify novel disease-causing alleles and new disease genes. Obviously, the next decade will see a large fraction of the world’s population sequenced. We believe that this will naturally shift genomics away from analyses of large, unrelated case/control cohorts towards massive pedigree-based ones. Our results and tools thus provide a first glimpse of the power of pedigrees and personal genome sequences to improve diagnosis and empower discovery.
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