(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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About eight years ago, a doctor in Turkey examined a 5-month-old boy for "failure to thrive and dehydration." Paradoxically, his diapers were wet, so the medical team was inclined to suspect Bartter syndrome, a congenital ...
Nov 15, 2017
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Researchers at the Broad Institute of MIT and Harvard, Koch Institute at MIT, Dana-Farber Cancer Institute, and Massachusetts General Hospital have developed an accurate, scalable approach for monitoring cancer DNA from blood ...
Nov 6, 2017
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(HealthDay)—Clinical exome sequencing is an effective diagnostic tool for infants suspected of having monogenic disorders, according to a study published online Oct. 2 in JAMA Pediatrics.
Oct 3, 2017
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When Audrey Lapidus' 10-month old son, Calvin, didn't reach normal milestones like rolling over or crawling, she knew something was wrong.
Jul 19, 2017
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A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...
Jul 17, 2017
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Scientists have identified a genetic mutation that causes a childhood kidney cancer called Wilms' tumour.
May 30, 2017
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Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes - providing new insights into their causes, and new recommendations for genetic testing.
May 4, 2017
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Whole-exome DNA sequencing—a technology that saves time and money by sequencing only protein-coding regions and not the entire genome—may routinely miss detecting some genetic variations associated with disease, according ...
Apr 21, 2017
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(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 ...
