Increasingly, the words "genetics" and "genome" are making their way into news stories about health and medicine. Doctors talk about scientific research—how there may be links between gene mutations in your DNA and an increased ...
Jan 28, 2019
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A genomic strategy implemented by researchers at Baylor College of Medicine can efficiently increase the molecular diagnostic rate of undiagnosed diseases. The researchers report in the New England Journal of Medicine that ...
Jun 20, 2019
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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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(HealthDay)—About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according ...
Dec 5, 2017
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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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Early results from the BabySeq Project, a Boston-based study exploring the impact of whole-exome sequencing (WES) on newborn infants and their families, suggest some utility in genetically sequencing these infants and offer ...
Oct 19, 2016
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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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