Large-scale changes to the structure of the genome are often seen in cancer cells. Scientists at the Babraham Institute in Cambridge, UK, have found a way to detect these changes, which could enhance cancer diagnosis and ...
Jul 4, 2017
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Uncovering rare susceptibility variants that contribute to the causes of complex diseases requires large sample sizes and massively parallel sequencing technologies. These sample sizes, often made up of exome and genome data ...
Jun 30, 2017
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An international team of scientists has identified several genetic mutations that, should they arise, could potentially allow the avian influenza strain H7N9 to spread between humans. The findings are published in PLOS Pathogens.
Jun 15, 2017
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A new analysis finds that nearly three-quarters of 500 patients with advanced cancer could be referred to a potential targeted treatment based on the results of a comprehensive analysis of their tumor's genetic landscape.
Jun 2, 2017
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Scientists have identified a genetic mutation that causes a childhood kidney cancer called Wilms' tumour.
May 30, 2017
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Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes - providing new insights into their causes, and new recommendations for genetic testing.
May 4, 2017
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Whole-exome DNA sequencing—a technology that saves time and money by sequencing only protein-coding regions and not the entire genome—may routinely miss detecting some genetic variations associated with disease, according ...
Apr 21, 2017
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(Medical Xpress)—An international team of researchers has developed a way to use RNA sequencing to help in diagnosing patients with rare genetic muscle conditions. In their paper published in the journal Science Translational ...
A new study examines how well families that donate tissue to a biobank—or decide not to donate—understand the risk and implications of a potential confidentiality breach. The technology to acquire genome sequence data ...
Apr 5, 2017
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Medical use of a patient's genomic sequence information can improve diagnostic capabilities and enable personalized therapies, but technical and practical barriers to understanding the clinical implications of sequence data ...
Apr 3, 2017
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