We propose to operate a state-of-the-art genome center to serve the scientific community. The Center will: (i) Have the flexible capability to produce a wide range of high-quality sequencing products - including whole-genome resequencing, whole-exome resequencing, de novo genome assembly, whole-transcriptome analysis, and epigenomic sequencing; (ii) Have the experience and ability to design, execute and analyze a wide range of scientific projects - including in medical genetics, cancer genomics, vertebrates genomics, microbial genomics and epigenomic analyses; (iii) Advance the state-of-the-art of sequencing - including by decreasing costs, developing new applications and pioneering new sequencing technologies;and (iv) Serve as a scientific resource for the biomedical community - including by creating and teaching courses, interacting with the research community to help with project design and working with the medical community to adapt protocols to clinical settings.
The Center's program will accelerate biomedical research, including through systematic identification of genes responsible for inherited diseases, genes recurrently mutated in cancer, functional elements encoded in the human genome, and microbes that interact with humans in health and disease. The knowledge will be made rapidly and freely available to the scientific community. It will provide a foundation for efforts to develop understand disease mechanisms and to develop approaches to prevention, diagnosis and therapy.
|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|
|Palkopoulou, Eleftheria; Lipson, Mark; Mallick, Swapan et al. (2018) A comprehensive genomic history of extinct and living elephants. Proc Natl Acad Sci U S A 115:E2566-E2574|
|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|
|Grasso, Catherine S; Giannakis, Marios; Wells, Daniel K et al. (2018) Genetic Mechanisms of Immune Evasion in Colorectal Cancer. Cancer Discov 8:730-749|
|Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide et al. (2018) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet 55:48-54|
|Schaub, Franz X; Dhankani, Varsha; Berger, Ashton C et al. (2018) Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas. Cell Syst 6:282-300.e2|
|Kolde, Raivo; Franzosa, Eric A; Rahnavard, Gholamali et al. (2018) Host genetic variation and its microbiome interactions within the Human Microbiome Project. Genome Med 10:6|
|Ghosh, Shereen G; Becker, Kerstin; Huang, He et al. (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet 103:431-439|
|Grossman, Sharon R; Engreitz, Jesse; Ray, John P et al. (2018) Positional specificity of different transcription factor classes within enhancers. Proc Natl Acad Sci U S A 115:E7222-E7230|
|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|
Showing the most recent 10 out of 349 publications