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- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Ethical, Legal and Social Implications (ELSI) Research Program1
Fact Sheet
Sickle cell disease resources for patients
Staff
Dr. Mo is an adjunct staff clinician in the Hematology Laboratory, Department of Laboratory Medicine in the NIH Clinical Center.
… provides phenotype-genotype correlation studies through large EHR-linked biobanks, such as All of Us Research Program …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… variables in genetic studies?  There are currently large efforts to diversify the demographics of genetic … within and between individuals, families, and populations. Large-scale genetic, genomic, and phenotypic data now provide …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… and genotyping along with epigenetic, functional, and synthetic genomics experiments. The development of completely … R21: RFA-HG-21-007 R43/R44: RFA-HG-21-008 Novel Synthetic Nucleic Acid Technology Development R01: …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… the cystine-depleting agent cysteamine, a life-saving compound, to New Drug Approval in 1994 by his testimony … Known for his relentless repertoire of jokes, Bill has a large personality that is known well beyond NHGRI. His …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… humans physiologically, its genome contains a surprisingly large number of genes. Piwi1-positive spermatogonia are shown … humans physiologically, its genome contains a surprisingly large number of genes that are like human disease genes, …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… M.D., Ph.D. Office of Technology Transfer Abstract Synthetic Methylmalonyl-CoA Mutase Transgene for the …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… in human genomes, ranging from small differences to large differences.  A very small subset of genomic variants … of nucleotides to larger chromosomal regions. These large-scale genomic differences are called structural … are considered structural variants; in fact, such large tandem repeats account for nearly half of the …