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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… and 125K whole exomes during the life of the program. More information on the CCDGs, including publications, can be … Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology … A collaborative large-scale genome sequencing …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… Consortium is to develop and maintain sustainable genome information resources that facilitate the use of diverse … to facilitate more holistic and effective use of the information in these resources. In collaboration with these … the Mouse Genome Database (MGD) , WormBase , Zebrafish Information Network (ZFIN) , Saccharomyces Genome Database …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… … Genomic Healthcare Equity and Genomic Healthcare Genomic Information and Healthcare Decision-making Interpretation and Use of Genomic Health Information Community and Stakeholder Informed Development of … communities and care providers as genomic data and technology are translated and applied in a variety of …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… of Novel Candidate Functional Elements with Bru-Seq Technology UM1 HG009382 Richard Myers Eric Mendenhall …  and Genomics of Gene Regulation  projects. Additional information about data standards and guidelines  and … project These examples provide the research community with information and examples to assist with the development of …
Research Funding
A scalable and interoperable resource that leverages cloud-based infrastructure for genomic data access, sharing and computing.​
… training and outreach  Incorporation of scientific and technology advance for storing, accessing, sharing and … Opportunities … AnVIL in the News … Events … Contact Information … Explore this Page … Data Use Oversight System … … Program Analysts … Policy Analyst … DATA (Data and Technology Advancement) Scholar … Genomic Analysis, …
Health FAQ
Discuss these questions with your doctor or health care provider.
… long hospital stays. It is important to obtain specific information about the clinical trial or therapy you are … ask to speak with a genetic counselor if you need more information. … Every person’s experience may be different. … issues, may arise. Visit our resource page for additional information on how to combat common issues in the caregiver …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in … One factor that limits the clinical use of variant information is the lack of openly accessible knowledge bases … their phenotypic and functional effects and other clinical information. ClinGen investigators are developing standard …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Mortazavi Barbara Wold UC Irvine California Institute of Technology Center for Mouse Genomic Variation at Single Cell … in neurodevelopmental disorders, as well as provide information relevant for others in the genomics and …