Improving the Human Reference Genome Resource

Washington University, Saint Louis MO

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Abstract

While the Human Genome Project was completed in April of 2003, work on the final product of that project, the reference human genome sequence, has continued. The reference genome has proved to be a critical resource for the entire biomedical research community, but still suffers from gaps, tiling path errors, and regions represented by uncommon alleles. Numerous genomic landscape studies (e.g. cancer) have been made possible by the current state of the reference and have contributed to the understanding of the biology of diseases such as AML, lung adenocarcinoma, and breast cancer to name a few. It has become apparent that analysis of an individual's whole genome sequence will give health care providers the ability help diagnose and determine treatment options. In order to continue to advance medical science and ultimately improve the effectiveness of healthcare, the reference human genome sequence must be improved. In addition, genome sequence data from many individuals must be added to the reference, so that it better reflects the genetic diversity of the human population, and serves as an effective resource for all population groups. The long-term objective of the proposed project is to make the reference human genome sequence more accurate and more useful to a wider range of applications. Specific aims include: the identification and resolution of all.issues (misassemblies, sequence errors, and gaps), the addition of allelic diversity, the implementation of new software and analysis tools, and the development and deployment of community training materials. The specific aims of the project will be achieved by aggressively identifying and cataloging errors and omissions in the current sequence, and by using a wide array of state-of-the-art methods, technologies, and resources to resolve them. All data and results will be immediately released to the research community via NCBI.