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Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Genes (Basel)
December 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors.
View Article and Find Full Text PDFGaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care.
J Korean Med Sci
January 2025
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals.
Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.
Sci Rep
January 2025
Genetic Analysis Department, Tsukiji Registered Clinical Laboratory, Riken Genesis Co., Ltd., Tokyo, Japan.
Comprehensive genomic profiling (CGP) is increasingly used as a clinical laboratory test and being applied to cancer treatment; however, standardization and external quality assessments (EQA) have not been fully developed. This study performed cost-effective EQA and proficiency tests (PT) for CGP testing among multiple institutions those belong to the EQA working group of Japan Association for Clinical Laboratory Science (JACLS). This study revealed that preanalytical processes, such as derived nucleic acids (NA) extraction from formalin fixed paraffine embedded (FFPE) samples, are critical.
View Article and Find Full Text PDFDistinct pathways utilized by METTL3 to regulate antiviral innate immune response.
iScience
November 2024
Center for Emerging Infectious Diseases, Wuhan Institute of Virology, Chinese Academy of Sciences, Wuhan, Hubei 430071, China.
Article Synopsis
- METTL3 is a key enzyme that adds m6A modifications to RNA, impacting innate immunity and viral responses.
- Infection with EV71 increases METTL3 levels in both IFN-deficient and proficient cells through changes in transcription and protein modifications.
- METTL3 regulates antiviral responses through both m6A-dependent and independent mechanisms, suggesting it could be a valuable target for developing antiviral treatments.
Genomic Surveillance of Foodborne Pathogens: Advances and Obstacles.
J Public Health Manag Pract
November 2024
Author Affiliations: Microbiology, Human Foods Program, US Food and Drug Administration, College Park, Maryland (Gensheimer, Allard, Timme, Brown, Hintz, Pettengill, Strain, Tallent, Vélez); and Association of Public Health Laboratories, Bethesda, Maryland (King, Shea).
Context: The genomic surveillance of foodborne pathogens in the United States has grown exponentially in the past decade, grounded in a powerful combination of novel sequencing technologies, bioinformatic approaches, data-sharing networks, and metadata harmonization efforts. This practice report examines recent advances in genomic epidemiology as applied to food safety programs and delineates State, Tribal, Local, and Territorial infrastructure necessary for continued life-saving improvements in public health.
Program: National databases of foodborne pathogen genomes, along with data sharing and evaluation networks such as GenomeTrakr and PulseNet, have transformed how connections are made among isolates and how root causes of outbreaks are determined, allowing much more timely interventions to protect public health.
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