There are two common bottlenecks in the application of genomics to medicine. The first is the availability of well phenotyped, consented populations of sufficient size for productive studies. The second is producing meaningful analyses of the generated genetic data. We are proposing to establish a Genetics and Genomics Core as part of this program project. Such a facility is needed to assist non-geneticist scientists who wish to carry out genetic studies of current patient populations or existing patient samples in repositories. To enhance the efficiency of this process, the Core will serve as a liaison to help more easily navigate the path from idea to gene identification. We anticipate performing 80-100 exomic sequences/year. The advisory role of the Core will be instrumental not only in helping investigators decide if they can expect to generate appropriate data from the samples they have, but also to assist them in the interpretation of data once it is generated. The Core will be directed by myself, with the help of the Scientific Leadership Committee (SLC) and Kathy Liszewski. Though not a trained geneticist, I have been involved in genetic studies increasingly throughout my professional career. Often this role has been interpreting the meaning of these studies in the context of clinical disease and the consequences of mutations or risk SNPs on protein function. However, I have also contributed to the design of both linkage and genome-wide association studies. Thus, the goal of this core is to support investigators studying thrombotic and hemostatic disorders and advise them on the use of targeted resequencing (either of candidate genes or all coding sequences, """"""""the exome"""""""") in close collaboration with the GI-WU. The Core's role is critical because the GI-WU is a production and analysis facility. The Core's existing expertise in navigating within this facility as well as experience in study design and interpretation will allow investigators to more easily and efficiently benefit from the resources of the GI-WU, which offers unparalleled economies of scale and experience in analysis. Our Core will support the incorporation of genomic medicine into clinical practice at Washington University for both diagnosis and response to therapy.
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