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 ...
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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 ...
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Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the ...
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When Ricky Ramon was 7, he went for a routine checkup. The pediatrician, who lingered over his heartbeat, sent him for a chest X-ray, which revealed a benign tumor in the top-left chamber of his heart. For Ramon, it was the ...
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Almost 1 in 10 people worldwide fall ill every year after eating contaminated food which commonly causes bacterial diarrhoea, resulting in 230 000 deaths each year.
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Lynn Whittaker stood in the hallway of her home looking at the framed photos on the wall. In one, her son, Andrew, is playing high school water polo. In another, he's holding a trombone.
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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 ...
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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 ...
An international effort to analyze the entire database of Ebola virus genomes from the 2013-2016 West African epidemic reveals insights into factors that sped or slowed the rampage and calls for using real-time sequencing ...
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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 ...
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