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About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… Report: Using Population Descriptors in Genetics and Genomics Research In response to a request from the National Institutes of Health, the National Academies assembled an … has become far more accessible, and research using human genetic data has grown exponentially over the past …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… … A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus … disease. The drug, miransertib, was well tolerated, even in children, according to a National Institutes of Health … determine the correct dose of the medicine. NIH's National Human Genome Research Institute (NHGRI) researchers and …
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
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 …
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
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 …
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 …