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 ...
(Medical Xpress)—We've done a number of articles recently about some amazing individuals developing personalized treatments to their own currently uncurable disease. Whether it is a rare orphan disease like Sanfilippo Syndrome ...
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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(HealthDay)—More than one-quarter of Canadian and Alaskan Inuit have the TBC1D4 mutation resulting in elevated postprandial glucose, and those with prediabetes and type 2 diabetes have increased risk of remaining undiagnosed, ...
Aug 31, 2016
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Published in today's edition of Nature, the research led by Dr Monkol Lek of the University of Sydney and Dr Daniel MacArthur of The Broad Institute of MIT and Harvard Universities reveals patterns of genetic variation worldwide ...
Aug 17, 2016
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Whole exome sequencing has revealed a novel mechanism and potential target for treating peripheral neuropathy, a condition that afflicts millions of people in the United States alone.
Aug 3, 2016
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This week, two important papers addressing pressing challenges and the best path forward for interpreting results from clinical genome and exome sequencing will appear in the American Journal of Human Genetics.
May 12, 2016
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UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly ...
Apr 6, 2016
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