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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… in setting the foundation for understanding cancer as a genomic disease and driving innovation in large-scale … which includes research grants and small business awards, and participates in NIH data science initiatives such … include enabling technologies for challenging problems in genomic biology and health such as secure data sharing with …
News Release
NHGRI will provide approximately $5.8 million over five years to create an educational hub for computational genomics and data science. The hub will provide new educational and research opportunities for students of diverse backgrounds, including those from groups historically underrepresented in the biomedical sciences.
… Funding to enhance diversity in genomic data science through cloud computing. … National … computing platforms to share educational resources for genomic data science to ensure its accessibility to various … All of Us Research Program. … About NHGRI and NIH … NIH awards $5.8M to create genomic data science educational hub …
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.
Research Training
Answers to Frequently Asked Questions for Ruth L. Kirschstein Individual National Research Service Award (NRSA) Fellowships with awards specifically for predoctoral students.
… Research Service Award (NRSA) Fellowships with three awards specifically for predoctoral students. The F30 Ruth L … of disease; the implementation and effectiveness of genomic medicine; genomic data science and bioinformatics; training, …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… of how and when genes are turned on and off. These awards emanate from the recently launched Genomics of Gene … Such knowledge is important for defining the role of genomic differences in human health and disease." With these … Over the past decade, numerous studies have suggested that genomic regions outside of protein-coding regions harbor …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… and their definitions . … Related Resources … The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG, please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… medical centers around the United States. In 2018, new awards expanded the UDN from seven to 12 clinical sites, … model system for the UDN. See a complete list of funded awards . NIH is using a NIH-wide approach to support the UDN … clinical sites. The DMCC will also support Research Cores (genomic sequencing, model organisms screening center, …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… thought to be caused by mutations in a single gene. The awards will be provided by the National Human Genome Research …  The data coordination center will manage the release of genomic data and facilitate data sharing.  Susanne May, …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… sequence to a reference human genome, sequence assembly, genomic variant calling, or annotation. Almost certainly, …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart … will provide an additional $20 million. The following awards were made: Washington University in St. Louis; $60 …