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Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants.
This article was published in the following journal.
Name: Genetics in medicine : official journal of the American College of Medical Genetics
Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few a...
This document was developed by the Pharmacogenetics (PGx) Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee, whose aim is to recommend variants for inclusion i...
Dysfunctional interpretations of intrusive thoughts are implicated in the etiology and maintenance of Obsessive-Compulsive Disorder (OCD). Cognitive Bias Modification training for interpretations (CBM...
To determine the extent and distribution of workforce shortages within the nation's medical laboratories.
Purpose Advanced anaplastic lymphoma kinase ( ALK) fusion-positive non-small-cell lung cancers (NSCLCs) are effectively treated with ALK tyrosine kinase inhibitors (TKIs). However, clinical outcomes i...
Analysis of the ongoing patient-therapist interaction, the transference, is considered a key active ingredient in psychoanalytically oriented psychotherapy and psychoanalysis.However, one ...
This single-center, randomized, double-blind, placebo-controlled trial was undertaken at an outpatient clinic in Shuguang Hospital. Newly diagnosed cough variant asthma adult patients with...
A Comparative Clinical Trial to Evaluate the Safety and Clinical Equivalence of Clotrimazole Troche/Lozenges USP, 10mg (Unique Pharmaceutical Laboratories, India) With Clotrimazole Troche 10mg (Roxane Laboratories Inc., USA) in Subjects With Oropharyngeal
The objectives of this study are to compare the efficacy and safety of Clotrimazole troche/ lozenges USP, 10 mg (Unique Pharmaceutical Laboratories, India) vs. Clotrimazole Troche/ Lozenge...
2622/5000 Mitochondrial diseases (MM) are the most common metabolic diseases. Since these pathologies are very heterogeneous in clinical terms, only the identification of mutations in nucl...
The RESOLVE II Study will assess the safety and efficacy of the steroid-releasing S8 Sinus Implant when used in post-sinus surgery patients who present with recurrent sinus obstruction. Th...
Services provided by an individual ethicist (ETHICISTS) or an ethics team or committee (ETHICS COMMITTEES, CLINICAL) to address the ethical issues involved in a specific clinical case. The central purpose is to improve the process and outcomes of patients' care by helping to identify, analyze, and resolve ethical problems.
Assessments aimed at determining agreement in diagnostic test results among laboratories. Identical survey samples are distributed to participating laboratories, with results stratified according to testing methodologies.
A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.
A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)
A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)
Collaborations in biotechnology
Commercial and academic collaborations are used throughout the biotechnology and pharmaceutical sector to enhance research and product development. Collaborations can take the form of research and evaluation agreements, licensing, partnerships etc. ...
Health care (or healthcare) is the diagnosis, treatment, and prevention of disease, illness, injury, and other physical and mental impairments in humans. Health care is delivered by practitioners in medicine, chiropractic, dentistry, nursing, pharmacy, a...