Genomic Analysis and Statistical Core

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PROJECT SUMMARY Core B will also ascertain and recruit patients, as in cycle 1, and establish the clinical and phenotypic classifications which are pivotal for Projects 1, 2 and 3. Core B will also acquire and manage all of the biologic resources for the Program. The goal is to recruit appropriate PH patients and members of families, to characterize the phenotypes and obtain the specimens needed to conduct all studies of the program, with the central overall objective to understand the pathogenic mechanisms that contribute to PAH to facilitate the development of novel translational therapies. Ongoing patient and family recruitment, phenotyping and sampling are vital to the overall program success. Comparisons of phenotypic variation with genotypic variation and the Omics analyses proposed in this project require the largest cohort available, in order to provide the best possible power in each individual subset. Further recruitment is also needed to strengthen the power for discovery for genotype phenotype correlations such as in expression quantitate locus (eQTL) mapping proposed in this application. Core B will ensure the generation of high quality analyses through the revision and refinement of the informatics pipelines and the development of statistical methodologies that can be applied to the proposed project. Recent advances in genomics have led to the generation of massive quantities of a diverse range of molecular data. Statistical methods for analyzing the complex, high-dimensional data continue to evolve and require knowledge of advanced statistical techniques. Core B personnel and facilities will perform the following key functions: 1. Ascertainment; 2 Recruitment; 3 Phenotyping; 4 Database entry and maintenance; 5 Specimen acquisition and storage 6 Specimen retrieval and distribution; and 7 Biostatistics and bioinformatics.