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About Genomics
Educational resources that will spark scientific curiosity, improve genomic literacy, and foster engagement among learners.
… About Genomics …
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.
… of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference … News: Human ‘pangenome’ published, with goal of making genomics more useful for diverse populations NewScientist : … About Genomics …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… of ~1/1000th of the human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 … “the complete human genome sequence would [have required] about 15 miles of hallway.” Check out a video tour of this … be held on Nov. 19, 2019 at 12 p.m. ET. To stay informed about the various strategic planning events, please sign up …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… What do we know about heredity and colon cancer? … About Colon Cancer …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… author, category and/or by date range. For an explanation about the selection criteria and categories, see the list of … Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, … Genomics and Medicine …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… for a small fraction of breast cancers. In Learning About the BRCAX Study , researchers discuss a recent advance … mutation." Positive test results only provide information about the risk of developing breast cancer. The test cannot … What do we know about heredity and breast cancer? …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… vision and compensate for improper turning of the eyes. In about 80 percent of cases of DS, only one eye is affected, … the reverse occurs when looking outward toward the ear. About 78 percent of all DS cases are Type 1. Type 2: The … the eyeball pulls in when looking inward toward the nose. About 7 percent of all DS cases are Type 2. Type 3: The …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… cardiofacial syndrome. As a result of this deletion, about 30 genes are generally absent from this chromosome. VCFS affects about 1 in 4,000 newborns. VCFS may affect more individuals, … often have learning difficulties and developmental delays. About 65 percent of individuals with the 22q11.2 deletion are …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… from each of his/her parents. Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general … Head of the Molecular Neurogenetics Section. Information about Dr. Sidransky's research on Gaucher disease can be … About Gaucher Disease …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… and cognitive decline. In the United States alone, about 30,000 people have HD. In addition, 35,000 people … technologies. Animal models: Scientists hope to learn more about the symptoms and progression of the disease by breeding … with the disease elect to be tested to resolve uncertainty about their future. A negative test relieves anxiety and …