Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.
Sep 28, 2012
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Patients with thoracic aortic aneurysms that lead to acute aortic dissections are 12 times more likely to have duplications in the DNA in a region of chromosome 16 (16p13.1) than those without the disease, according to a ...
Jun 16, 2011
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Using nanopore sequencing, a rapid third-generation cytogenetic analysis tool, investigators are now able to accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular ...
Jun 13, 2022
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People with certain genetic conditions are likely to have significant symptoms of autism, even if they do not meet all diagnostic criteria, a study concludes.
Jan 1, 2021
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Deletions and duplications of DNA are responsible for wide-ranging developmental difficulties in children, finds a new study by Cardiff University.
May 3, 2019
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(HealthDay)—Polygenic risk can mimic major monogenic mutation in severe hypertriglyceridemia, according to a case report published online July 25 in the Annals of Internal Medicine.
Jul 27, 2017
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Scientists have developed an easy-to-use software tool that can detect important genetic mutations that previously needed to be identified by a separate test.
Nov 28, 2016
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Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
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A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at ...
Apr 24, 2014
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Whole genome sequencing—spelling out all 3 billion letters in the human genome—"is an obvious and powerful method for advancing our understanding of pancreatic cancer," according to a new study from TGen, Mayo Clinic ...
Oct 10, 2012
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