Cardiac muscle degeneration—cardiomyopathy—is the most common cause of severe cardiac dysfunction and life-threatening cardiac arrhythmias in children. These severe disorders often lead to consideration of heart transplant. ...
Nov 7, 2018
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Genetic mutations in blood cells that have made their way into tumors could be red herrings that mislead physicians looking for genetic changes in tumors that are helping to drive the cancer. This finding is significant because ...
Jun 5, 2018
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An international survey of genetic testing labs shows that - despite the availability of BRCA1 and BRCA2 testing for more than two decades - global protocols and standards are surprisingly inconsistent when it comes to analyzing ...
Feb 15, 2018
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Bottom Line: Next-generation sequencing of circulating tumor DNA (ctDNA) identified distinct genomic profiles with potentially targetable alterations in 99.7 percent of patients with carcinoma of unknown primary (CUP) who ...
Aug 15, 2017
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Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic ...
Jun 14, 2017
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A new genetic testing method developed at Western University called LipidSeq can identify a genetic basis for high-cholesterol in almost 70 per cent of a targeted patient population. Using next-generation sequencing (NGS) ...
Oct 20, 2016
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Symptoms of infection with the Zika virus in Brazil may be masked by simultaneous infection with other mosquito-spread viruses common in the same region—such as dengue fever and chikungunya viruses—pointing to the need ...
Jul 14, 2016
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Through a detailed study of leukaemia cells from more than 200 children, a research group at Lund University in Sweden has discovered two new types of childhood leukaemia. Using next-generation sequencing technology (NGS), ...
Jun 7, 2016
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The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in ...
May 30, 2016
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(HealthDay)—New mutations have been identified with next-generation sequencing (NGS) in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T), which are prognostic for survival, according to a study published ...
Feb 22, 2016
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