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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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … at broadening the applications of genomic information in biomedical research and health care. Some of the successes of this program, which culminated …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… video tag. Credit: Harry Wedel, NHGRI. Despite the rise in studies using polygenic risk scores, researchers have … to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, … Goddard, Ph.D., director of Translational and Applied Genomics at the Kaiser Permanente Center for Health Research, …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human … program, a very limited number will be invited to proceed in the study following careful application review by the …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial … with the cell’s ability to produce energy. Infection in individuals with mitochondrial disease can lead to …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… appointed Oleg Shchelochkov, M.D., as the new director of Clinical and Laboratory Residencies and Fellowships. Dr. … genetics at the University of Iowa Hospitals and Clinics. In this role, Dr. Shchelochkov was routinely recognized with … about both the depth and breadth of Oleg’s vision for genomics education. As our field expands, it is critical for …
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.
… from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral histories by … In 2012, she provided founding leadership for the Clinical Genome (ClinGen) Resource, an authoritative central …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research … work he began with the Undiagnosed Diseases Program in 2008. … But when he gave the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome … of parkinsonism. In collaboration with the NIH Chemical Genomics Center, hundred-thousands of small molecules were …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… Ph.D. Every year, NHGRI recognizes outstanding trainees in the Division of Intramural Research by granting the NHGRI … the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … who continue to make valuable contributions in the area of genomics and related fields. Our well-deserving recipients …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… for health professionals to have a firm understanding of genomics to better serve their patients. These resources provide reliable, up-to-date information about genomics competencies, patient care, and our partnership and outreach activities. … Related …