Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive degeneration of motor neurons, leading to muscle weakness and eventually death. While significant strides have ...
Feb 18, 2025
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Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis ...
Jun 7, 2024
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Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...
Apr 25, 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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The Association for Molecular Pathology (AMP) today published a report that explores specific considerations for a slice testing strategy for diagnostics, including gene selection, analytic performance, coverage, quality, ...
Dec 20, 2023
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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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Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 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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