News tagged with genetic diagnosis
Computational software provides rapid identification of disease-causing gene variations
Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...
Genetics
Jun 23, 2011 |
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Single-cell sequencing leads to a new era of cancer research
BGI, the world's largest genomics organization, developed single-cell genome sequencing technology and published two research papers for cancer single-cell sequencing in the research journal Cell. In the papers, which were p ...
Genetics
Mar 02, 2012 |
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Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Unexplained intellectual disability explained by state-of-the-art genetic analysis
A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability ...
Genetics
Nov 08, 2012 |
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In next-gen DNA sequence, new answers to a rare and devastating disease
In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Medical research
Sep 06, 2011 |
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New study launched investigating the impacts of personal genomic testing
As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. ...
Genetics
Mar 05, 2012 |
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Next-generation DNA sequencing to improve diagnosis for muscular dystrophy
Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases.
Medical research
Mar 05, 2012 |
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Researchers suggest some emerging infectious diseases may have been around a long time
(Medical Xpress)—A genetics research team led by Pardis Sabeti of Harvard University has published a paper in the journal Science, suggesting that some infectious diseases that are thought to be relati ...
Diseases, Conditions, Syndromes
Nov 09, 2012 |
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Technology targets genetic disorders linked to X chromosome
Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and ...
Genetics
Oct 18, 2011 |
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Scientists use genetically altered virus to get tumors to tattle on themselves
Scientists have used a genetically re-engineered herpes virus that selectively hunts down and infects cancerous tumors and then delivers genetic material that prompts cancers to secrete a biomarker and reveal their presence.
Cancer
May 11, 2011 |
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BUSM professor authors book on how knowledge about genes and family history can save lives
World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many genetic disorders. Based ...
Genetics
Aug 26, 2011 |
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Study finds wide variation in best-estimate clinical diagnosis of autism spectrum disorders
In a study conducted at 12 university-based research sites, there was wide variation in how best-estimate clinical diagnoses within the autism spectrum were assigned to individual children, according to a study being published ...
Psychology & Psychiatry
Nov 07, 2011 |
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Diagnostic brain tumor test could revolutionize care of patients
Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need ...
Cancer
Jan 27, 2012 |
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Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers ...
Cancer
May 07, 2012 |
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Distinct molecular subtype of prostate cancer identified
A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical ...
Genetics
May 20, 2012 |
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