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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
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… with newly generated genome sequences. This reveals genomic changes that have occurred in different populations … for sequencing the extracted DNA [see DNA Sequencing ]. Genomic studies like these have allowed us to examine human … where people are different from each other [see Human Genomic Variation ], among a collection of Europeans. The …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… form should reflect the research uses for which samples, genomic data, and health information might be shared. … to obtain consent for future uses and broad sharing of genomic and phenotypic data. For more information on genomic data sharing expectations, see the NIH Genomic Data …
Policy Issues
The Genome Statute and Legislation Database is comprised of state statutes and bills introduced during U.S. state legislative sessions.
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… critical scientific issue that is important for advancing genomic science and improving healthcare across human … when other data are not available. … Advances in genomic medicine greatly amplify the urgency of ensuring the … of the work that we do. Simply stated, the design of some genomic research studies has exacerbated scientific flaws due …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… learning analyses could benefit disease research and genomic tools like CRISPR.  NHGRI is identifying and shaping its unique role in the convergence of genomic and machine learning research. … What are machine … has led to the generation of an extraordinary amount of genomic data. Estimates predict that genomics research will …
Event
Webinar to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020.
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… but his accomplishments have already changed the way genomic scientists across the world approach genome … to complete the arduous process of putting the human genomic puzzle together. He excelled at Loyola College. In a … a renowned computational biologist at The Institute for Genomic Research. In 2000, the field of genomics was still …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… ethical, legal and social issues including utilization of genomic information, access to genomic services, and how genomics is perceived by different … pre-doctoral and post-doctoral, and career development awards, the NHGRI provides additional opportunities for …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and … best interests of the child, pediatricians must recommend genomic sequencing when necessary for diagnosis whether or … Pediatricians must disclose the presence of genomic variants that can immediately help guide treatments. …