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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 Awards1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… finds that sickle cell trait is prevalent among diverse human populations. … National Institutes of Health (NIH) … risk of blood clots, a risk that is the same among diverse human populations that may not traditionally be associated … cell disease, a genetic condition that causes red blood cells to become rigid and sticky, which blocks blood flow. …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing … from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from … to improve our understanding of the disease." Normal blood cells (left) and the blood cells in Sickle cell disease, …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… … Dr. Tifft is a senior clinician at the National Human Genome Research Institute where she serves as deputy … pathogenesis of LSDs, the Proia/Tifft team have generated induced pluripotent stem (iPS) cells from a patient with infantile …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
… 8,500 knockouts of mouse genes, in the form of embryonic stem (ES) cells. He is now working to implement The Knockout Mouse … by multiple Institutes. Prior to joining the National Human Genome Research Institute (NHGRI), Dr. Fletcher was a …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical … paid to understanding the underlying costs of generating a human genome sequence. Accurately determining the cost for sequencing a given genome (e.g., a human genome) is not simple. There are many parameters to …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… Human Genome Project … The Human Genome Project was an international project that mapped and sequenced the entire human genome. … Human Genome Project, Francis Collins, DNA, …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… to six research institutions to create a database of human cellular responses, the Library of Integrated … computer algorithms to detect and analyze perturbations induced by therapeutic drugs in healthy and diseased human … signatures, using human heart, liver and nerve cells from stem cells that have been derived from human skin cells. Such …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences … among the most common questions that humans ponder. The Human Genome Project produced a reference human genome …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National … the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood cells contain the protein hemoglobin, which carries oxygen in …