Thousands of never-before-seen genetic variants in the human genome have been uncovered using a new genome sequencing technology. These discoveries close many human genome mapping gaps that have long resisted sequencing.
Nov 10, 2014
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Researchers have solved a 60-year-old mystery by identifying a gene that can cause rejection, kidney failure and even death in some blood transfusion patients. In this study, published in Nature Genetics online 7 April, they ...
Apr 7, 2013
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Fifty years after participating in studies of pentosuria, an inherited disorder once mistaken for diabetes, 15 families again welcomed medical geneticists into their lives. Their willingness to have their DNA analyzed with ...
Oct 31, 2011
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(AP) -- George Eberhardt turned 107 last month, and scientists would love to know how he and other older folks like him made it that far. So he's going to hand over some of his DNA. He's one of 100 centenarians taking part ...
Oct 26, 2011
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The stretches of DNA that differ from person to person, called variants, are a major part of what makes us unique, but they can also put us at greater risk of disease. Although we can currently spell out between 80% and 90% ...
Feb 7, 2022
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A new gene sequencing technology allows us to explore the human genome at a much higher resolution than ever before, with revolutionary implications for research and cancer diagnosis.
Mar 9, 2015
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A special feature in this week's issue of the journal Science highlights protein array technology, touching on research conducted by Joshua LaBaer, director of the Biodesign Institute's Virginia G. Piper Center for Personalized ...
May 22, 2012
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Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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Epigenome editing is an emerging technology used to regulate gene function by controlling epigenetic states at specific locations on the genome. This method is distinct from traditional genetic editing, which involves permanently ...
Nov 6, 2023
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Researchers at the Hong Kong University of Science and Technology (HKUST) developed a novel technology which allows genomic DNA and RNA sequencing to be carried out simultaneously in single cells of both frozen and fresh ...
Feb 2, 2023
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