Context: Genomic medicine is revolutionizing patient care. Physicians in areas as diverse as oncology, obstetrics, and infectious disease have begun using next-generation sequencing assays as standard diagnostic tools.
Objective: To review the role of pathologists in genomic testing as well as current educational programs and future training needs in genomic pathology.
Data Sources: Published literature as well as personal experience based on committee membership and genomic pathology curricular design.
Conclusions: Pathologists, as the directors of the clinical laboratories, must be prepared to integrate genomic testing into their practice. The pathology community has made significant progress in genomics-related education. A continued coordinated and proactive effort will ensure a future vital role for pathologists in the evolving health care system and also the best possible patient care.
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http://dx.doi.org/10.5858/arpa.2013-0359-SA | DOI Listing |
Genomics Proteomics Bioinformatics
December 2024
Monash Biomedicine Discovery Institute and Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia.
Unlabelled: The accurate identification of catalytic residues contributes to our understanding of enzyme functions in biological processes and pathways. The increasing number of protein sequences necessitates computational tools for the automated prediction of catalytic residues in enzymes. Here, we introduce SCREEN, a graph neural network for the high-throughput prediction of catalytic residues via the integration of enzyme functional and structural information.
View Article and Find Full Text PDFDiscov Oncol
December 2024
Department of Cerebrovascular Disease, Suining First People's Hospital, No. 2 Wentao Road, High-Tech Zone, Suining, 629000, Sichuan, China.
The immune response plays a pivotal role in tumor progression and therapy. However, the influence of protein PAR polymerases (PARPs) modifications on cell infiltration within the tumor microenvironment (TME) remains insufficiently understood. In this study, the Clinical and RNA sequencing data we performed a comprehensive analysis of PARPs modification patterns, exploring their associations with TME cell infiltration were acquired from the Cancer Genome Atlas (TCGA) and Chinese Glioma Genome Atlas (CGGA) database.
View Article and Find Full Text PDFHepatology
December 2024
Department of Liver Surgery and Transplantation, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Background And Aims: Hepatocellular carcinoma (HCC) recurrence is a major factor limiting long-time survival and the cause of most deaths in patients with HCC. However, molecular characterisation and potential therapeutic targets of recurrent HCC remain mostly unknown.
Approach And Results: We performed whole-exome sequencing (WES) in 63 matched primary and recurrent HCC tumours and combined the data with whole-genome sequencing (WGS) results in 43 paired samples from our previous study.
Int J Phytoremediation
December 2024
Key Laboratory of the Evaluation and Monitoring of Southwest Land Resources (Ministry of Education), Sichuan Normal University, Chengdu, China.
The combined microbial-plant remediation has increasingly been used to remediate heavy metal-contaminated soil. Some microorganisms could enhance phytoremediation efficiency by solubilizing heavy metal and improve plant growth by producing phytohormones in the heavy metal contaminated soils. In the present study, a strong cesium (Cs)-tolerant fungal strain was identified from soil microorganisms contaminated with Cs, and the enrichment conditions for Cs were optimized.
View Article and Find Full Text PDFJ Pineal Res
January 2025
Department of Integrated Biology and Physiology, University of Minnesota, Minneapolis, Minnesota, USA.
Light environment in the Arctic differs widely with the seasons. Studies of relationships between objectively measured circadian phase and amplitude of light exposure and melatonin in community-dwelling Arctic residents are lacking. This investigation combines cross-sectional (n = 24-62) and longitudinal (n = 13-27) data from week-long actigraphy (with light sensor), 24-h salivary melatonin profiles, and proxies of metabolic health.
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