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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
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… acting as a vocal advocate for increased ancestral diversity in research participants and in the international … at the forefront of genomics, such as implementing new genomic technologies and approaches, developing treatments … and into a worldwide revolution for expanding access to genomic data, knowledge and technologies. “My vision for the …
News
NHGRI has appointed Marcus G. Hodges, Ph.D., as director of its Intramural Training Office (ITO).
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… and ethnicity, and to help the public understand the rich diversity and common history of all people," said Dr. … identity, family background and ancestry derived from genomic analyses," said Dr. Green. NHGRI and NIMHD are … enhance representation of diverse ancestral populations in genomic studies. "We need to develop a consensus on the …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… with his proven track record as a mentor and commitment to diversity, equity, inclusion and accessibility.” Dr. Venditti … — and we are excited to continue our efforts to bring new genomic therapies to patients. The Metabolic Medicine Branch … Branch investigators also use cutting-edge genetic and genomic techniques to find new genes implicated in metabolic …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… New sequence reveals genomic factors in fertility, including sperm production. … … than 50% of the Y chromosome’s length, uncovers important genomic features with implications for fertility, such as … you haven't seen before, the hope is always that those genomic variants will be important for understanding human …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… For me, I would like us to focus on not only discovering genomic variants but also understanding the functional …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… we need more data, and those data need to reflect the diversity of patients,” said Dr. Solomon. “Not only do we … background and so on, so that the data capture the diversity of patient experiences. Then these models can learn …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… the body because they convert food and oxygen into energy. Genomic variants in more than 350 genes have been linked to … less is known how they affect the immune system. Using a genomic technique called single-cell RNA sequencing, which …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… is a fundamental one. Accurately describing human diversity has a direct impact on our understanding of genomic variation among people, and in turn, how such … ethnicity and race are used as inexact proxies for genomic ancestry. But scientists still disagree on how these …