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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In the era of genome sequencing, it's time to update the old "bench-to-bedside" shorthand for how basic research discoveries inform clinical practice, researchers from The Jackson Laboratory (JAX), National Human Genome Research ...
Mar 24, 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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The Retinoblastoma protein (pRB) has long been studied for its role in cell growth and the prevention of cancer. In a new study by Lawson Health Research Institute, scientists have discovered that pRB plays another, larger ...
Dec 15, 2016
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Scientists are getting closer to being able to predict an individual's genetic risk of heart disease, paving the way for earlier intervention and lifestyle changes.
Sep 23, 2016
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Human genome sequencing costs have dropped precipitously over the last few years, however the analytical ability to meet the growing demand for making sense of large data sets remains as a bottleneck. With the introduction ...
Sep 13, 2016
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In 2001, researchers developed a formula, or algorithm, that predicts whether a specific change in a gene sequence can result in harmful effects. While useful, the algorithm was slow; the computations underpinning these predictions ...
May 6, 2016
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We used to think that our fate was in the stars. Now we know in large measure, our fate is in our genes.
Apr 21, 2016
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A new study that assesses the accuracy of modern human-genome-sequencing technologies found that some medically significant portions of an individual's DNA blueprint are situated in complex, hard-to-analyze regions that are ...
Mar 1, 2016
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