A study shows, for the first time, that epigenetic defects in the human genome are widespread, and occur at hundreds of genes known to cause genetic diseases.
Sep 15, 2020
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Researchers at Uppsala University have developed a method for identifying functional mutations and their effect on genes relevant to the development of glioblastoma—a malignant brain tumor with a very poor prognosis. The ...
Jun 9, 2020
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St. Jude Children's Research Hospital scientists have discovered a gene associated with about half of glucocorticoid resistance in children with the most common pediatric cancer. Researchers have also identified a drug that ...
Mar 9, 2020
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Children who undergo expansive genetic sequencing may not be getting the thorough DNA analysis their parents were expecting, say experts at UT Southwestern Medical Center.
Jan 6, 2020
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Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods of genetic analysis, researchers at Karolinska Institutet report in the scientific journal Genome Medicine. Whole-genome ...
Nov 7, 2019
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Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel ...
Nov 6, 2019
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New findings suggest that women with specific DNA characteristics in certain areas of the genome may live longer if they take aspirin before they are diagnosed with breast cancer. Published early online in CANCER, a peer-reviewed ...
Aug 12, 2019
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A new machine-learning method accurately identifies regions of the human genome that have been duplicated or deleted—known as copy number variants—that are often associated with autism and other neurodevelopmental disorders. ...
Jul 10, 2019
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...
Feb 7, 2019
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