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Molecular Diagnostics

Image: Scanning electron micrograph of inside the nucleus of a cancer cell, chromosomes are indicated by blue arrows and circular extrachromosomal DNA are indicated by orange arrows (Photo courtesy of Paul S. Mischel, MD, UC San Diego).

Pan-Cancer Study Reveals Extrachromosomal DNA Frequency

Extrachromosomal circular DNA (eccDNA) are circular DNA found in human, plant and animal cells in addition to chromosomal DNA. eccDNA originate from chromosomal DNA and can be from 50 base pairs to several mega-base pairs in length and encode regulatory elements and several full genes. More...
01 Sep 2020
Image: Mass cytometry by time of flight uses CyTOF technology to enable deep profiling of translational and clinical samples across a range of cell surface and intracellular markers (Photo courtesy of University of Virginia).

Adaptive Immune Cells in Ulcerative Colitis Revealed by Single-Cell Analyses

Inflammatory bowel disease encompasses a spectrum of complex intestinal disorders characterized by dysregulated innate and adaptive immune responses to gut microbiota in genetically susceptible hosts. More...
01 Sep 2020
Image: The CDC 2019 Novel Coronavirus (2019-nCoV) Real-Time Reverse Transcriptase (RT)–PCR Diagnostic Panel detects the SARS-CoV-2 virus in upper and lower respiratory specimens. The new P-BEST approach provides both an eight-fold improvement in testing efficiency as well as an eight-fold reduction in cost of PCR testing (Photo courtesy of Center for Disease Control and Prevention)

New Pooling Strategy Increases Efficiency and Reduces Cost of COVID-19 PCR Tests

A new way of manipulating samples for COVID-19 testing of asymptomatic and symptomatic individuals provides both an eight-fold increase in testing efficiency, as well as an eight-fold reduction in test costs. More...
31 Aug 2020
Image: Exosomes are 30-150 nanometer extracellular vesicles containing various molecular cargoes such as RNA and proteins. (Photo courtesy of Wikimedia Commons)

An Extracellular Vesicle-Based Liquid Biopsy for Early Cancer Detection

An early diagnostic approach for a wide range of cancers is based on liquid biopsy analysis of proteins found in or released by extracellular vesicles circulating in the blood. More...
27 Aug 2020
Image: The Genie III instrument was used for the reverse transcriptase loop-mediated isothermal amplification-assay called N1 gene Single Tube Optigene LAMP (N1-STOP-LAMP) for COVID-19 (Photo courtesy of OptiGene Ltd).

Loop-Mediated Isothermal Amplification-Assay Rapidly Diagnoses COVID-19

The SARS-CoV-2 (COVID-19) pandemic of 2020 has resulted in unparalleled requirements for RNA extraction kits and enzymes required for virus detection, leading to global shortages. This has necessitated the exploration of alternative diagnostic options to alleviate supply chain issues. More...
25 Aug 2020
Image: The role of exome sequencing in newborn screening for inborn errors of metabolism. Low positive predictive value and complex differential diagnoses of MS/MS newborn screening for glutaric academia-1 (Photo courtesy of University of California Berkeley).

Newborn Exome Sequencing Locates Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substrates into others products. More...
25 Aug 2020
Image: Formalin-Fixed Paraffin-Embedded (FFPE) blocks containing ovarian cancer samples (Photo courtesy of  University of New South Wales)

Gene Panel Predicts Likely Survival Time for Ovarian Cancer Patients

A large international consortium of ovarian cancer researchers identified a panel of genes that could identify patients who were least likely to achieve five-year survival. More...
25 Aug 2020
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