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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 interdisciplinary committee of expert volunteers to conduct a study to review and assess …
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 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 collection of different genomes from which to compare an individual … the green and dark blue paths miss the C nucleotide in its route and represent a deletion variant. The light blue …
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 … and faculty member at Washington University School of Medicine. Virtually all aspects of my professional life have their origins at Washington … A recording of NHGRI's first strategic planning Town Hall, along with the …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… An international team of researchers has identified genomic mutations for … a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. … protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibers (myotubes) …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … 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 … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. …
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 … reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… 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 some African populations, opening new avenues for research on skin … to cellular stress differently. National Institutes of Health researchers contributed to this effort, led by …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… 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.
… Survey reveals that use of the term “race” has declined, while “ancestry” and … National Institutes of Health researchers have found that the words that scientists use to describe human populations — such as race, ancestry, and ethnicity — … Lu, Lawrence C. Brody, Vence L. Bonham. Evolving use of ancestry, ethnicity, and race in genetics research — A …