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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 …