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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to give informed consent. … In a new analysis, a working group of the Clinical …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the former Office of Rare … Rare Diseases Research Innovation at the National Center for Advancing Translational Sciences) - two agencies at the … a genetic or rare disease and who need information for their research have contacted GARD, as have people who …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… … Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between … … Ancestry-informative markers are sets of polymorphisms for a particular DNA sequence that appear in substantially … … Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… The National Human Genome Research Institute supports research and training and career … developing new technologies, and studying the impact of genomics on society. … To apprise the community of research … publishes funding opportunities in the NIH Guide for Grants and Contracts . For your convenience, we have also …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… This raises the question of when and how it is appropriate for the scientists to look for and share such research … researchers believe that at a minimum and after an informed consent process, incidental findings that are medically …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… “The promise of genomics cannot be fully achieved without successfully … M.D., Ph.D., NHGRI Director … The National Human Genome Research Institute (NHGRI) Division of Intramural Research is … clinicians in this domain.  The Immersive Summer Program for Research in Genomics (iSPRinG) aims to build and sustain …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… The study, by researchers at NIH's National Human Genome Research Institute (NHGRI) and the NIH Clinical Center, was … them prepare emotionally, psychologically and financially for post-birth challenges. Women with higher genomic literacy … is the ability to understand and use genomic information for health-related decisions. Some women didn't want certain …
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
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… Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic … … Elena Ghanaim, NIH Genomic Data Sharing (GDS) Policy, Informed Consent, health privacy regulations, human research …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… National Institutes of Health (NIH) grants aim to gauge if genomics can be used to help diagnose diabetes, keep heart … (IGNITE) program administered by the National Human Genome Research Institute (NHGRI), part of NIH. All three projects … in broader, community-based medical settings must happen for genomic medicine to eventually gain wider use." The …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
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… of genomics research and technologies, assess policy needs for the field, and develop policy positions on issues arising … … Elena Ghanaim, NIH Genomic Data Sharing (GDS) Policy, Informed Consent, health privacy regulations, human research …