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Molecular Diagnostics

Image: Single-cell RNA-seq reveals cellular heterogeneity that is masked by bulk RNA-seq methods (Photo courtesy of 10x Genomics)

Alzheimer's Disease Gene Expression Varies by Brain Cell Type

 Genetic variants in apolipoprotein E (APOE) and other genes have been implicated in late-onset Alzheimer's disease through genome-wide association studies and other analyses. More...
09 Dec 2019
Image: Method for measuring large numbers of protein components in a single blood test (Photo courtesy of SomaLogic)

Diagnosing Disease Conditions by Analyzing Plasma Protein Expression Patterns

 A proof-of-concept study demonstrated that protein expression patterns in plasma samples were indicative of many different health issues, and that combining large-scale protein scanning with machine learning was a viable approach for the development of new diagnostic and prognostic tools. More...
09 Dec 2019
Image: Micrograph showing a prostate cancer (conventional adenocarcinoma) with perineural invasion (Photo courtesy of Wikimedia Commons)

Home Urine Collection for More Accurate Prostate Cancer Detection

 A standardized sampling system enables men being tested for prostate cancer to collect a urine sample at home and mail it to a laboratory for analysis. More...
09 Dec 2019
Image: Colored positron emission tomography (PET) scans of axial sections through a healthy brain (upper) and a schizophrenic brain (lower). Genetic architectures of schizophrenia in East Asian and European populations have been compared (Photo courtesy of WebMD)

Genetic Architectures of Schizophrenia Compared in Different Populations

 While the common genetic variants contributing to schizophrenia in East Asian individuals appear to broadly resemble those found in Europeans, polygenic risk scores (PRS) for the condition cannot necessarily be transferred from one population to the next. More...
05 Dec 2019
Image: Photomicrograph of histology of fibrolamellar hepatocellular carcinoma, showing large polygonal tumors cells with granular eosinophilic cytoplasm (Photo courtesy of Nephron)

Marker Panel Detects Early Liver Cancer with Increased Sensitivity

 Several types of cancer can form in the liver. The most common type of liver cancer is hepatocellular carcinoma, which begins in the main type of liver cell (hepatocyte). Other types of liver cancer, such as intrahepatic cholangiocarcinoma and hepatoblastoma, are much less common. More...
05 Dec 2019
Image: Gene Sequencing identifies pathogenic variants in sudden cardiac death versus controls and asymptomatic adults (Photo courtesy of Massachusetts General Hospital)

Rare Genetic Variants Associated with Sudden Cardiac Death

 A recent study has assessed the prevalence of rare pathogenic variants in sudden cardiac death cases versus controls, and the prevalence and clinical importance of such mutations in an asymptomatic adult population. More...
04 Dec 2019
Image: Researchers introduced the first electrochemical CRISPR-based biosensor to help improve disease diagnostics (Photo courtesy of Richard Bruch, University of Freiburg)

CRISPR-based Electrochemical Biosensor Detects Disease-related MicroRNAs

 A microfluidic chip containing a CRISPR/Cas-based electrochemical biosensor has been introduced as a device for the rapid and precise analysis of the microRNAs involved in various disease states. More...
03 Dec 2019
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