Specialty Pharma Journal Specialty, Precision & Technology
MIAMI, Jan. 12, 2018 (GLOBE NEWSWIRE) — OPKO Health, Inc. (NASDAQ:OPK), announces today that GeneDx, Inc., a subsidiary of OPKO’s BioReference Laboratories, has entered into a research collaboration with the Radboud University Medical Center, Nijmegen, Netherlands. Through the agreement, GeneDX and Radboud aim to identify novel genes and pathways to help understand the …
Tag Archives: whole exome sequencing
January, 2018
November, 2016
-
28 November
Gene Discovered to Cause Rare, Severe Neurological Disorder
Researchers have linked a debilitating neurological disease in children to mutations in a gene that regulates neuronal development through control of protein movement within neuronal cells. The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, …
May, 2016
-
9 May
Collaborative Study of Whole Exome Sequencing Offers New Hope for Children with White Matter Disorders
SAN DIEGO–(BUSINESS WIRE)–Illumina, Inc. (NASDAQ: ILMN), Children’s National Health System and The University of Queensland (UQ) announced today that a study using whole exome sequencing (WES), a method to look at all the genes in the genome at once, yielded clinical diagnoses for 42 percent of patients with white matter abnormalities …
March, 2016
-
30 March
New Tool Mines Whole-Exome Sequencing Data to Match Cancer with Best Drug
A University of Colorado Cancer study published today in the Journal of the American Medical Informatics Association (JAMIA) describes a new tool that interprets the raw data of whole exome tumor sequencing and then matches the cancer’s unique genetics to FDA-approved targeted treatments. “Whole exome sequencing is becoming more available …
December, 2015
-
9 December
OPKO’s GeneDx Study Reveals Usefulness of Whole Exome Sequencing in Diagnosing Rare Disorders
MIAMI–(BUSINESS WIRE)–OPKO Health, Inc. (NYSE:OPK) announced today through its subsidiary GeneDx, results from a retrospective review of molecular diagnostic testing by Whole Exome Sequencing (WES). The peer-reviewed study, “Clinical Application of Whole Exome Sequencing across Clinical Indications,” was published in the December 2015 issue of Genetics in Medicine. It is …
March, 2015
-
10 March
Quest Diagnostics Announces Availability of Exclusive Whole Exome Sequencing Service for Diagnosis of Pediatric Neurological Disorders
Quest Diagnostics announced that it is now offering a whole exome sequencing service aimed to enhance the diagnosis of rare neurological disorders in pediatric population. The leading provider of diagnostic information services today announced the availability of Neurome, a whole exome sequencing service. Leading genomics-based diagnostic laboratory, Personalis, Inc. developed …