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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A team of scientists, part of the international effort to curb further spread of the Ebola virus in Sierra Leone, has released its first dataset of the virus' genetic structure online. The dataset will allow the global scientific ...
Jun 3, 2015
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(HealthDay)—Use of a next-generation sequencing (NGS) panel including genes associated with highly penetrant colorectal cancer and polyposis (CRCP) syndromes is cost-effective for CRCP diagnosis, according to a study published ...
May 9, 2015
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New research from The University of Manchester published in the Journal of Community Genetics reveals a stark variation in genetic testing services for inherited eye disease in England.
Mar 31, 2015
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