A team of scientists, part of the international effort to curb further spread of the Ebola virus in Sierra Leone, has released its first dataset of the virus' genetic structure online. The dataset will allow the global scientific ...
Jun 3, 2015
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People with achromatopsia, an inherited eye disorder, see the world literally in black and white. Worse yet, their extreme sensitivity to light makes them nearly blind in bright sunlight. Now, researchers at University of ...
Jun 1, 2015
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Scientists at the University of Massachusetts Medical School have applied a powerful tool in a new way to characterize genetic variants associated with human disease. The work, published today in Cell, will allow scientists ...
Apr 23, 2015
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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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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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(Medical Xpress)—A new diagnostic test may be around the corner thanks to the discovery of a gene mutation that marks the progression from a harmless oesophageal condition to cancer, according to research published in Nature ...
Jun 23, 2014
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Long before next-generation sequencing technology ushered in today's data-intensive era of human genome information, clinicians have been taking family histories by jotting down pedigrees: hand-drawn diagrams recording how ...
Mar 21, 2014
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(Medical Xpress)—The discovery of a 'faulty gene' in children with liver disease could pave the way for new treatments for children with a range of serious and life-threatening liver conditions.
Mar 11, 2014
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The study, published in The American Journal of Human Genetics, detected and identified a new disease gene (ERCC6L2). In its normal form, the gene plays a key role in protecting DNA from damaging agents, but when the gene ...
Feb 6, 2014
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The human microbiome, the collection of trillions of microbes living in and on the human body, is not random, and scientists believe that it plays a role in many basic life processes. As science continues to explore and better ...
Jan 9, 2014
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