(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 ...
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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A study of 2,377 children with autism, their parents and siblings has revealed novel insights into the genetics of the condition.
May 12, 2015
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(Medical Xpress)—A large team of researchers with members from several universities and hospitals in the U.S. has developed a sequencing platform that generates "clinical-grade" data using whole exome sequencing (WES) from ...
Researchers from Children's Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of Health have developed a ...
May 21, 2024
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Over 40% of cases curated based on stringent clinical and laboratory criteria from the Indian subcontinent have an inherited iron metabolism defect on comprehensive genomic evaluation, report investigators in The Journal ...
May 20, 2024
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In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 2024
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A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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Among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and ovarian cancer (HBOC) or Lynch syndrome, 39.2% would not have qualified for genetic ...
Apr 18, 2023
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A large research project, led by scientists at Sylvester Comprehensive Cancer Center in the University of Miami Miller School of Medicine, Memorial Sloan Kettering Cancer Center, and Weill Cornell Medical College, has found ...
Feb 21, 2023
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