CORE 4 - Genetics, Single Cell Sequencing and RNA seq Core

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Genetics, Single-Cell Sequencing, and RNASeq Core PROJECT SUMMARY/ABSTRACT - Genetics, Single-Cell Sequencing, and RNASeq Core. The Genetics, Singe-Cell Sequencing, and RNASeq Core will provide NORC investigators with access to, and assistance with, state-of-the-art molecular methods based on Next Generation Sequencing. Our major goal is to make the technology accessible to NORC investigators who may not have the resources or experience to take full advantage of these methods. We will pursue two complementary approaches. First, we will generate a graphical user interface to provide NORC investigators with access to a database of precomputed tests for genetic association in the Dallas Heart Study, and the Dallas Biobank. NORC Investigators will query the database by genotype (e.g. a gene symbol or genetic marker) to identify traits associated with that gene or marker in the DHS), or by phenotype, to identify genes and mutations that contribute to that phenotype. Data from whole exome sequencing and whole genome microarrays is available for participants in both of these studies and phenotype data relevant to NORC investigators has been collected. This resource will enable NORC investigators to exploit the unique advantages of human genetics to dissect cause-effect relationships in metabolic pathways and to identify novel components of these pathways. Second, we will assist NORC investigators with the design and interpretation of their NGS-related experiments. Laboratory analyses will be performed by the McDermott Center Sequencing Core. We will focus on genetics, single-cell sequencing and RNASeq because these methods are by far the most widely requested services by investigators at UT Southwestern. Our Specific Objectives are: 1) Assist NORC Investigators to use genetic association and Mendelian Randomization and whole genome/exome sequencing; 2) Enable NORC investigators to use Single- cell sequencing and provide analysis of results; and 3) Assist NORC investigators with the design and interpretation of RNASeq analyses in a reliable, cost-effective manner.