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.

Public Health Relevance

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.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HG003067-12
Application #
8584299
Study Section
Special Emphasis Panel (ZHG1-HGR-P (O2))
Program Officer
Felsenfeld, Adam
Project Start
2003-11-10
Project End
2015-10-31
Budget Start
2013-11-01
Budget End
2014-10-31
Support Year
12
Fiscal Year
2014
Total Cost
$8,091,034
Indirect Cost
$906,515
Name
Broad Institute, Inc.
Department
Type
DUNS #
623544785
City
Cambridge
State
MA
Country
United States
Zip Code
02142
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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

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