Whereas only three years ago we concerned ourselves mainly with production capacity and costs, thelandscape of genome sequencing and analysis has changed to the point that we now find our attentionfocused on the application of our technology platform and our expertise to large-scale studies of the diseasecausingelements of the human genome. This evolution is the result of two major factors. The first is a highqualityreference sequence of the human genome; in recent years, the quality and value of both the sequenceand the attendant annotation have been greatly improved as a result of sequencing the genomes of otherorganisms. The second factor is the emergence of new technology that provides sufficient low-costsequencing capacity to facilitate the interrogation of many individual human genomes in search of thesequence variants that underlie disease susceptibility and pathogenesis. In this proposal, we describe ourextant genome technology platform, our extensive experience in sequencing and analyzing genomes, and wediscuss how these resources may be brought to bear as a component of the NHGRI large-scale sequencingprogram. Additionally, we describe the new Tumor Sequencing Project and five 'center- initiated' projectsthat further illustrate how our technology platform will impact the fields of genome biology and genomicmedicine over the next several years.
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: |
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