The genotyping core will provide a centralized resource for maintaining human case material for the two projects and one Pilot engaged in gene discovery efforts. These use subphenotyping, fine mapping, genomic rearrangement and admixture approaches (Lidral, Marazita, Murray). The core resource of families (>600) and case/parent triads (500) is derived from the Lidral/Marazita/Murray genome-wide linkage search collaboration with genotyping done by the Center for Inherited Disease Research (CIDR). All family material has been genotyped for 392 microsatellite markers providing an unprecedented opportunity to add phenotypes (Project 0002), gene mapping data (Project 0001 and Pilot) and candidate gene data (Projects 0003, 0004, 0005 and Core E) to this material using these Core activities. The Core will also provide genotyping in the Lidral, Marazita and Murray projects with a common set of 156 SNPs on genes/loci available using high throughput methods. The genotyping core will be integrated with both the biostatistics and functional analysis cores. This integration of cores will provide an opportunity to develop a synthesized genotype/haplotype/expression map for all 58 genes in a 10 Mb region on 9q undergoing detailed fine mapping as pilot data for providing global genetic/expression maps of gene paths integral to craniofacial development. Data transfer to the biostatistics core will be managed using a management system developed over the last five years. Interactions with Core E will allow us to continue to select the best candidate/landmark genes for incorporation into the fine mapping and sequencing studies. Genotyping will be based in the Murray Lab at the University of Iowa or done through outreach to commercial firms. Dr. Murray will serve as the overall director of the genotyping core and he will be assisted in the day-to-day operation by Cathy Dragan who will serve as the primary data analyst.
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