Genetics
Genetic discovery helps explain Irish giant folklore
Scientists at the University of Exeter Medical School were part of genetics research which could help explain the legend of giants in Irish folklore.
Oct 17, 2016
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152
Human Mutation
Genetics
New gene testing technology finds cancer risks 'hiding in plain sight'
A research team led by an award-winning genomicist at Western University has developed a new method for identifying mutations and prioritizing variants in breast and ovarian cancer genes, which will not only reduce the number ...
Apr 28, 2016
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41
Cardiology
Scientists publish first complete record of genetic mutations behind rare vascular disease
The genetic architecture of a debilitating and potentially fatal vascular disease has for the first time been detailed in its entirety, providing clinicians with the comprehensive data needed to improve diagnosis and deliver ...
Sep 25, 2015
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48
Genetics
Geneticists launch Matchmaker Exchange for rare disease gene discovery
In a special issue of Human Mutation, a team including investigators at Brigham and Women's Hospital has announced the launch of the Matchmaker Exchange - a way for the rare disease community to share information and find ...
Sep 24, 2015
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12
Genetics
Researchers identify genetic mutation linked to congenital heart disease
A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease—the most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide ...
Jul 29, 2013
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0
Genetics
Team publishes findings on TAF1 syndrome
An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, Ph.D., of the New York State Office for People With Developmental Disabilities' (OPWDD) ...
Nov 21, 2019
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