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.
| Berger, Ashton C; Korkut, Anil; Kanchi, Rupa S et al. (2018) A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers. Cancer Cell 33:690-705.e9 |
| Hoadley, Katherine A; Yau, Christina; Hinoue, Toshinori et al. (2018) Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer. Cell 173:291-304.e6 |
| Liu, Jianfang; Lichtenberg, Tara; Hoadley, Katherine A et al. (2018) An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics. Cell 173:400-416.e11 |
| Bailey, Matthew H; Tokheim, Collin; Porta-Pardo, Eduard et al. (2018) Comprehensive Characterization of Cancer Driver Genes and Mutations. Cell 173:371-385.e18 |
| Magrini, Vincent; Gao, Xin; Rosa, Bruce A et al. (2018) Improving eukaryotic genome annotation using single molecule mRNA sequencing. BMC Genomics 19:172 |
| Blue, Elizabeth E; Bis, Joshua C; Dorschner, Michael O et al. (2018) Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord 45:1-17 |
| 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 |
Showing the most recent 10 out of 234 publications
