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Molecular Diagnostics

Image: A micrograph of non-alcoholic fatty liver disease, demonstrating marked steatosis (fatty liver appears white) (Photo courtesy of Wikimedia Commons).

Determining Fibrosis Stage in Non-Alcoholic Fatty Liver Disease

Measurement of a specific biomarker identifies advanced fibrosis in patients with non-alcoholic fatty liver disease. More...
24 Sep 2018
Image: A photomicrograph showing a neuron with inclusion (stained orange) caused by Huntington\'s disease (Photo courtesy of Wikimedia Commons).

Biomarkers Measured for Early Detection of Huntington's Disease

A recent paper described a blood test and capable of detecting the earliest stages of Huntington's disease. More...
24 Sep 2018
Image: The Archer FusionPlex Sarcoma Kit: A targeted sequencing assay to simultaneously detect and identify fusions of 26 genes associated with soft tissue cancers (Photo courtesy of Illumina).

Targeted Sequencing Approach for Sarcoma Gene Fusions Validated

Sarcomas are rare cancers that grow in a patient's connective tissue, such as bones, muscles, tendons, nerves, and fat. Symptoms may not be apparent, since the only signs of sarcomas are lumps on a person's skin. More...
12 Sep 2018
Image: A blood film from a patient with Chronic Lymphocytic Leukemia (CLL); a large lymphocyte (arrow) has a notched nucleus and demonstrates the variable appearance of some of the lymphocytes in CLL (Photo courtesy of Peter Maslak).

New mRNA Cancer Drivers Revealed in Chronic Lymphocytic Leukemia

New evidence has emerged showing that the inactivation or alteration of cancer suppressor genes can take place even if DNA itself remains unaltered. A known molecular mechanism for cancer development and spread is the inactivation of tumor suppressor genes, which encode various tools the body uses to keep its cells from turning cancerous. More...
11 Sep 2018
Image: A micrograph of prostate adenocarcinoma, acinar type, the most common type of prostate cancer (Photo courtesy of Wikimedia Commons).

Elevated Gene Expression Correlates with Prostate Cancer Severity

Elevated expression of the gene ANO7 has been shown to correlate with the severity and possible outcome of prostate cancer (PrCa). More...
10 Sep 2018
Image: Whole-exome sequencing provides an underlying diagnosis in an efficient, cost-effective manner and incorporates analysis of newly characterized genes (Photo courtesy of Ambry Genetics).

Breast and Ovarian Cancers Associated with Predisposition Genes

Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both. More...
06 Sep 2018
Image: The HiSeq 4000 Systems provide a multi-application solution for production-scale genomic laboratories (Photo courtesy of Illumina).

Unexplained Illness Puts Pathogen Discovery to Test

High-throughput sequencing can provide insights into epidemiology and medicine through comprehensive surveys of viral genetic sequences in environmental and clinical samples. More...
05 Sep 2018
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