In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease ...
Oct 27, 2020
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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 have shown that a variation in the viral genome of COVID-19 improved its ability to infect human cells and helped it become the dominant strain circulating around the world today.
Jul 2, 2020
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For the nascent brain of a human embryo to develop into the complex organ that controls human consciousness, a finely tuned sequence of genetic events has to take place; hundreds of genes are activated and deactivated in ...
Jun 30, 2020
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An important milestone in the fight against COVID-19 came in early January 2020, when the entire viral genome of the novel coronavirus that causes the diseasewas sequenced for the first time. Since then, the full coronavirus ...
Jun 23, 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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Researchers from the Centre for Genomic Regulation (CRG) have launched a new database to advance the international research efforts studying COVID-19.
Mar 27, 2020
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New research by Yale University scientists reports the discovery of "hyperhotspots" in the human genome, locations that are up to 170-times more sensitive to ultraviolet radiation (UV) from sunlight compared to the genome ...
Nov 14, 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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Whole genome sequencing of tumour cells could help predict the prognosis of a patient's cancer and offer clues to identify the most effective treatment, suggests an international study published today in Nature Medicine.
Sep 30, 2019
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