Whereas only three years ago we concerned ourselves mainly with production capacity and costs, the landscape of genome sequencing and analysis has changed to the point that we now find our attention focused on the application of our technology platform and our expertise to large-scale studies of the disease causing elements of the human genome. This evolution is the result of two major factors. The first is a highquality reference sequence of the human genome;in recent years, the quality and value of both the sequence and the attendant annotation have been greatly improved as a result of sequencing the genomes of other organisms. The second factor is the emergence of new technology that provides sufficient low-cost sequencing capacity to facilitate the interrogation of many individual human genomes in search of the sequence variants that underlie disease susceptibility and pathogenesis. In this proposal, we describe our extant genome technology platform, our extensive experience in sequencing and analyzing genomes, and we discuss how these resources may be brought to bear as a component of the NHGRI large-scale sequencing program. Additionally, we describe the new Tumor Sequencing Project and five """"""""center- initiated"""""""" projects that further illustrate how our technology platform will impact the fields of genome biology and genomic medicine over the next several years.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
3U54HG003079-07S1
Application #
8100599
Study Section
Special Emphasis Panel (ZHG1-HGR-P (A1))
Program Officer
Felsenfeld, Adam
Project Start
2003-11-10
Project End
2011-10-31
Budget Start
2009-11-01
Budget End
2010-10-31
Support Year
7
Fiscal Year
2010
Total Cost
$1,000,000
Indirect Cost
Name
Washington University
Department
Genetics
Type
Schools of Medicine
DUNS #
068552207
City
Saint Louis
State
MO
Country
United States
Zip Code
63130
Hmeljak, Julija; Sanchez-Vega, Francisco; Hoadley, Katherine A et al. (2018) Integrative Molecular Characterization of Malignant Pleural Mesothelioma. Cancer Discov 8:1548-1565
Sanchez-Vega, Francisco; Mina, Marco; Armenia, Joshua et al. (2018) Oncogenic Signaling Pathways in The Cancer Genome Atlas. Cell 173:321-337.e10
Way, Gregory P; Sanchez-Vega, Francisco; La, Konnor et al. (2018) Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas. Cell Rep 23:172-180.e3
Ricketts, Christopher J; De Cubas, Aguirre A; Fan, Huihui et al. (2018) The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep 23:313-326.e5
Knijnenburg, Theo A; Wang, Linghua; Zimmermann, Michael T et al. (2018) Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas. Cell Rep 23:239-254.e6
Blue, E E; Yu, C-E; Thornton, T A et al. (2018) Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. Genes Brain Behav 17:e12429
Peng, Xinxin; Chen, Zhongyuan; Farshidfar, Farshad et al. (2018) Molecular Characterization and Clinical Relevance of Metabolic Expression Subtypes in Human Cancers. Cell Rep 23:255-269.e4
Huang, Kuan-Lin; Mashl, R Jay; Wu, Yige et al. (2018) Pathogenic Germline Variants in 10,389 Adult Cancers. Cell 173:355-370.e14
Martin, Alicia R; Karczewski, Konrad J; Kerminen, Sini et al. (2018) Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. Am J Hum Genet 102:760-775
Kronenberg, Zev N; Fiddes, Ian T; Gordon, David et al. (2018) High-resolution comparative analysis of great ape genomes. Science 360:

Showing the most recent 10 out of 234 publications