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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When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests. Most of the time, you never hear about the results ...
Jan 17, 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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In The BMJ's Christmas edition this week, a study identifies the genetic origin of the ability to smell the strong, characteristic odor in human urine produced after eating asparagus.
Dec 13, 2016
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Some 10 million points of genetic variation are scattered across a molecule of DNA, and those variations make us who we are as individuals. But in some cases, those variants contribute to diseases, and it's a major challenge ...
Nov 7, 2016
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Researchers have identified 12 specific areas of the DNA sequence that are robustly related with the age at which we have our first child, and the total number of children we have during the course of our life. The study, ...
Oct 31, 2016
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A new genetic testing method developed at Western University called LipidSeq can identify a genetic basis for high-cholesterol in almost 70 per cent of a targeted patient population. Using next-generation sequencing (NGS) ...
Oct 20, 2016
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Parents of children newly diagnosed with cancer value the results of whole exome sequencing for a variety of reasons beyond clinical actionability, according to research presented at the American Society of Human Genetics ...
Oct 20, 2016
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Early results from the BabySeq Project, a Boston-based study exploring the impact of whole-exome sequencing (WES) on newborn infants and their families, suggest some utility in genetically sequencing these infants and offer ...
Oct 19, 2016
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