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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, or material of human … Clinical researchers at the National Human Genome Research Institute (NHGRI) are developing advanced methods … of inherited and acquired genetic disorders. … Clinical research is research conducted with human subjects, or …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… in traits, including the risk for disease. Some genomic variants are small, like changes to single letters of … cancer, respectively, compared to previously identified genomic variants. These findings suggest a potentially … significant role of VNTRs in human traits.  This research was funded by NIH through a grant to Steven …
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… risk of kidney disease. … "Strides have been made but more research must be done to understand the interactions of … Project, the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The study, which … and people of African ancestry to benefit from advances in genomic and precision medicine," Dr. Rotimi said. "Investing …
Research Funding
Policies and guidance regarding research funding from the NHGRI and the National Institutes of Health.
… federal agency responsible for biomedical and behavioral research and research training. As such, it is accountable to Congress and … the general public for responsible stewardship of federal research dollars. Sound management of research funds requires …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… spring from the ethical, legal and social implications of genomic research, will be held on June 5 - 7, 2017 by The Jackson Laboratory for Genomic Medicine and UConn Health in Farmington, Connecticut. …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . Meanwhile, the … of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the …
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.
… fund a set of genome sequencing and analysis 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 …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, … health and disease, and seeks technologies that facilitate genomic discoveries. … Dr. Hutter comes to the position with … which generated over 2.5 petabytes of publically available genomic data used by the cancer research community to improve …
Clinical Research
A study for patients with unexpected genetic results
… having genetic testing done for some other reason. … The Genomic Services Research Program (GSRP) is a study of people with "secondary … of uncertain significance   … May 13, 2021: From one genomic diagnosis, researchers discover other treatable …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… are available. As someone who previously led an active research program in comparative genomics, I was pleased to … using population descriptors as a proxy to describe human genomic variation. These descriptors have reflected … individuals’ nationality, geography, and ethnicity, but genomic variation is complex and fails to track accurately to …