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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Steven Benowitz … Researchers analyzing human, fly, and worm genomes have found that these species … and other biological processes vital to understanding human biology and disease. … The studies highlight the data … used to make proteins. DNA is packaged into chromatin in cells, and changes in this packaging can regulate gene …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health … M.D., and Paul Kruszka, M.D., co-created the Atlas of Human Malformation Syndromes in Diverse Populations with …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… to announce the completion of a draft sequence of the human genome. The ceremony took place in the East Room of the … gathered to celebrate a major milestone for the Human Genome Project. This historic landmark for biomedical … research was in the making for nearly 10 years, since the Human Genome Project (HGP) began on October 1, 1990. Led by …
News Release
The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine.
… Sheena Faherty, Ph.D. … The Human Genome Project has been awarded the 2017 Prince Mahidol … by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National … responsible for leading NIH's effort in the project. … The Human Genome Project, completed in 2003, was an …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… identified and catalogued more species that reside on the human skin than has ever been possible, largely due to … these previously unknown species are the most abundant on human skin. The results appear in a new catalog, the Skin … in Nature Microbiology . Investigators at the National Human Genome Research Institute (NHGRI), European …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… origin of the mutation that causes sickling of red blood cells, which reduces their ability to carry oxygen and can … in the April 2018 issue of The American Journal of Human Genetics . It has also gained worldwide attention, … origin of the mutation that causes "sickling" of red blood cells. … Sickle allele, Sickle cell disease, Center for …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Eric Green, M.D., Ph.D. … Thirty years ago, today, the Human Genome Project (HGP) officially launched. I was there … have been awarded one of the first center grants for the Human Genome Project by the then-named National Center for Human Genome Research. For that grant, I led a small research …
The Genomics Landscape
In June 1, 2023, edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the NHGRI-funded Human Pangenome Reference Consortium releasing a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference.
… of the 99 th meeting of the National Advisory Council for Human Genome Research , held last month, are now available on … the 100 th meeting of the National Advisory Council for Human Genome Research in September. All the best, … The … effort to investigate genetic variation in normal human cells and tissues Genome: Unlocking Life's Code May 2023 …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… Project is a worldwide effort to understand how the human genome functions. With the completion of its latest … has added millions of candidate DNA “switches” from the human and mouse genomes that appear to regulate when and … knowledge gap. The human body is composed of trillions of cells, with thousands of types of cells. While all these …