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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
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Public Liaison Branch … An international team of researchers has identified genomic mutations for … researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This … Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… I was deeply flattered to receive an honorary Doctor of Science degree from Washington University at its 2018 … … After more than a decade, The Cancer Genome Atlas (TCGA) program is drawing to an end. A … focused on studying the genomic changes in three types of human cancers: brain, lung, and ovarian cancer. After a …
News Release
NHGRI will fund $3.35 million over five years to launch the Genome Research Experiences to Attract Talented Undergraduates into the Genomics Field to Enhance Diversity (GREAT) program.
… Funding part of broader efforts to enhance diversity of genomics workforce … The National Human Genome Research Institute (NHGRI), part of the National … backgrounds, including those from groups underrepresented in science, to conduct genomics research and receive career …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… More complete and sophisticated collection of genome sequences captures significantly more human diversity. … The new pangenome reference is a … the green and dark blue paths miss the C nucleotide in its route and represent a deletion variant. The light blue …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … … Acid), Retrovirus Virus … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. It is caused by infection with the human immunodeficiency virus (HIV), which leads to loss of …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… Jeannine Mjoseth … In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… Steven Benowitz … Investigators with The Cancer Genome Atlas (TCGA) Research Network have discovered genomic … - in head and neck cancers caused by infection with the human papillomavirus (HPV). HPV is the most common sexually … transmitted virus in the United States, and the number of HPV-related head and neck cancers has been growing. Almost …
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 … sequence was generated by the Human Genome Project in 2003. While this reference sequence has been regularly …
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.
… Prabarna Ganguly, Ph.D. … Survey reveals that use of the term “race” has declined, while “ancestry” and … have found that the words that scientists use to describe human populations — such as race, ancestry, and ethnicity — … on its own but is used more when paired with “ethnicity.” In addition, the use of “ancestry” and “ethnicity” also has …
Leadership Initiatives
NHGRI articulates goals and objectives to increase the number of individuals from diverse backgrounds in genomics.
… The promise of genomics cannot be fully achieved without successfully … that includes people from groups underrepresented in the genomics enterprise. … To be at the forefront of … a genomics workforce that reflects the diversity of the human population. This will require greatly increasing the …