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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Imagine a day when you visit the doctor's office for your annual physical. Your physician orders routine tests - cholesterol, glucose and blood count - but they also order a sequence of your genome, all 3 billion letters ...
Jan 12, 2017
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A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. ...
Jan 6, 2017
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Thyroid hormones have important and diverse roles in human health and regulate metabolic rate. Thyroid disease is common (affecting 5-10 per cent of the population) and synthetic thyroid hormones are one of the commonest ...
Mar 9, 2015
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Investigators at Nationwide Children's Hospital have developed an analysis "pipeline" that slashes the time it takes to search a person's genome for disease-causing variations from weeks to hours. An article describing the ...
Jan 30, 2015
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Researchers at the UC Santa Cruz Genomics Institute have received a grant for up to $1 million from the Simons Foundation to develop a comprehensive map of human genetic variation. The Human Genome Variation Map will be a ...
Jan 13, 2015
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Researchers in the United States have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders. The findings provide a map of some of the crucial protein ...
Dec 30, 2014
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Walter Gilbert won the Nobel Prize in 1980 in Chemistry for his contribution to sequence DNA, or "determination of base sequences in a nucleic acid". Mohit Kumar Jolly, researcher at Rice University and contributor to The ...
Sep 23, 2014
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Physicians envision a future in which genomic data from patients is heavily used to manage care—but experts have questioned the accuracy and reliability of these analyses. Now, a study by 150 researchers in 12 countries ...
Sep 12, 2014
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Computer scientists at the Wellcome Trust Sanger Institute have released a major upgrade of Samtools, one of the most popular next-generation sequence analysis tools. The revised Samtools 1.0 enables researchers to easily ...
Aug 15, 2014
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