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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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)—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 ...
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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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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"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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Acute lymphoblastic leukemia (ALL) cells from patients whose cancers did not respond to CD19-targeted CAR T therapy had gene regulation signatures that could potentially facilitate treatment resistance, according to results ...
Apr 12, 2022
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Sarcomas—cancers that arise from transformed mesenchymal cells (a type of connective tissue)—are quite deadly. Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating ...
Oct 24, 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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A new kind of prenatal genetic testing can improve obstetricians' ability to diagnose the underlying causes of fetal anomalies found during prenatal ultrasounds. But the results require expert interpretation, according to ...
Jan 31, 2019
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