Medical Re-sequencing

Graphic by NCBI

Featured Publications Wheeler, DA, Srinivasan, M, Egholm, M, Shen, Y, Chen, L, McGuire, A, He, W, Chen, YJ, Makhijani, V et al. The complete genome of an individual by massively parallel DNA sequencing.  Nature  2008 Apr 17; 452(7189):872-6. [PubMed]

The focus for the BCM-HGSC medical re-sequencing (MedRS) pipeline is to explore the entire spectrum of genomic change in disease through the application of genome analysis technologies, including large-scale genome sequencing. The Cancer Genome Atlas Pilot Project was initiated in 2006 to identify important genetic changes involved in lung, brain, and ovarian cancers. The overall effort was preceded by a technical demonstration project, known as the Tumor Sequencing Project (TSP), to determine the feasibility of a full-scale effort to systematically explore the universe of genomic changes involved in all types of human cancer. The TSP has focused on developing and testing the complex science and technology framework needed to identify and characterize the genetic mutations and other genomic changes associated with cancer. To date, the BCM-HGSC has established well over 30 collaborations to study a variety of diseases with more than 6,000 genes being analyzed.

The goal of studying the human genome has always been to improve human health by empowering the research community to reach long-range objectives of understanding disease at the molecular level and will help transform the bench-to-bedside research paradigm with prevention, early diagnosis, targeted treatment and a cure.

Selected PubMed Citations

Wheeler, DA, Srinivasan, M, Egholm, M, Shen, Y, Chen, L, McGuire, A, He, W, Chen, YJ, Makhijani, V et al. The complete genome of an individual by massively parallel DNA sequencing.  Nature  2008 Apr 17; 452(7189):872-6. [PubMed]

Coarfa, C, Milosavljevic, A. Pash 2.0: scaleable sequence anchoring for next-generation sequencing technologies.  Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing  2008; 102-13. [PubMed]

Detera-Wadleigh, SD, Liu, CY, Maheshwari, M, Cardona, I, Corona, W, Akula, N, Steele, CJ, Badner, JA, Kundu, M et al. Sequence variation in DOCK9 and heterogeneity in bipolar disorder.  Psychiatr. Genet.  2007 Oct; 17(5):274-86. [PubMed]

McGuire, AL, Gibbs, RA. Meeting the growing demands of genetic research.  The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics  2006; 34(4):809-12. [PubMed]