Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have produced the first end-to-end DNA sequence of a human chromosome. The results, published today in ...
Jul 14, 2020
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Researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The study, carried out by scientists at the ...
Jun 29, 2020
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Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. ...
Jun 8, 2020
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Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically ...
Jan 27, 2020
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National Institute of Health researchers have reported the largest genomic study of type 2 diabetes (T2D) in sub-Saharan Africans, with data from more than 5,000 individuals from Nigeria, Ghana and Kenya. Researchers confirmed ...
Jul 19, 2019
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Researchers have discovered that a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic ...
Dec 6, 2018
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Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource (ClinGen) ...
Oct 12, 2018
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Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large numbers of genotypes (an individual's collection of genes). Until now, it has been difficult for researchers to re-contact ...
Mar 1, 2018
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Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable ...
Oct 11, 2017
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Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources, part of a new website launched by the National Human Genome Research ...
Sep 19, 2017
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