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Horiba has recently announced the publication of scientific studies which demonstrate the excellent performance of its new HELO high throughput fully automated hematology platform on body fluid and pathological samples. Horiba’s Yumizen® H2500 and H1500 automated hematology analysers within the HELO platform deliver enhanced precision for complete blood counts and white blood cell (WBC) differential […]
Elevated hormone flags liver problems in mice with methylmalonic acidemia. Researchers have discovered that a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder. Based on this finding, medical teams treating patients with MMA will […]
The development of decision support systems for pathology and their deployment in clinical practice have been hindered by the need for large manually annotated datasets. To overcome this problem, the authors present a multiple instance learning-based deep learning system that uses only the reported diagnoses as labels for training, thereby avoiding expensive and time-consuming pixel-wise […]
A new type of blood test for breast cancer could help avoid thousands of unnecessary surgeries and otherwise precisely monitor disease progression, according to a study led by the Translational Genomics Research Institute (TGen) and Mayo Clinic in Arizona. The study suggests that the test called TARDIS — TARgeted DIgital Sequencing — is as much […]
Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have utilized automated machine-learning and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use of genome sequencing as a first-line diagnostic […]
A new blood test in development has shown ability to screen for numerous types of cancer with a high degree of accuracy, a trial of the test shows. The test, developed by GRAIL, Inc., uses next-generation sequencing technology to probe DNA for tiny chemical tags (methy-lation) that influence whether genes are active or inactive. When […]
In a new study, a team of researchers led by Charis Eng, M.D., Ph.D., Chair of Cleveland Clinic’s Genomic Medicine Institute, identified a metabolite that may predict whether individuals with PTEN mutations will develop cancer or autism spectrum disorder (ASD). Germline mutations of the tumour suppressor gene PTEN are associated with a spectrum of rare […]
A new calculator developed by the University of Exeter will help clinicians classify whether a patient has type 1 or type 2 diabetes, ensuring they get the best treatment and reducing complications. The calculator uses a model that takes into account available data about the patient, as well as blood test results. It can be […]
Liquid biopsy is likely to play an increasing role in identifying patients with colorectal cancer (CRC) who are likely to relapse after surgery, and has potential for optimising treatment for individual patients, according to new research. Of 805 patients in the phase III IDEA-FRANCE trial who had liquid biopsy prior to adjuvant chemotherapy for stage […]
Modern science and data sharing converged to underpin a study led by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, that identified a gene associated with a rare condition that results in physical and intellectual disabilities of children. The results suggest that rare variants in the gene DDX6 are associated with […]
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