We introduce the Transcriptome State Perturbation Generator (TSPG) as a novel deep-learning method to identify changes in genomic expression that occur between tissue states using generative adversarial networks. TSPG learns the transcriptome perturbations from RNA-sequencing data required to shift from a source to a target class. We apply TSPG as an effective method of detecting biologically relevant alternate expression patterns between normal and tumor human tissue samples. We demonstrate that the application of TSPG to expression data obtained from a biopsy sample of a patient's kidney cancer can identify patient-specific differentially expressed genes between their individual tumor sample and a target class of healthy kidney gene expression. By utilizing TSPG in a precision medicine application in which the patient sample is not replicated (i.e., ), we present a novel technique of determining significant transcriptional aberrations that can be used to help identify potential targeted therapies.
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http://dx.doi.org/10.1016/j.patter.2020.100087 | DOI Listing |
Arab J Gastroenterol
January 2025
Endemic Medicine Department, Faculty of Medicine, Helwan University, Cairo, Egypt; Liver Disease Research Center, College of Medicine, King Saud University, Riyadh 11411, Saudi Arabia. Electronic address:
Personalized medicine is an emerging field that provides novel approaches to disease's early diagnosis, prevention, treatment, and prognosis based on the patient's criteria in gene expression, environmental factors, lifestyle, and diet. To date, hepatocellular carcinoma (HCC) is a significant global health burden, with an increasing incidence and significant death rates, despite advancements in surveillance, diagnosis, and therapeutic approaches. The majority of HCC lesions develop in patients with liver cirrhosis, carrying the risks of mortality associated with both the tumor burden and the cirrhosis.
View Article and Find Full Text PDFClin Biochem
January 2025
Pathology and Laboratory Medicine Program, Health Sciences Centre, St. John's, Newfoundland and Labrador, Canada; Memorial University of Newfoundland, Health Sciences Centre, St. John's, Newfoundland and Labrador, Canada. Electronic address:
Purpose: Rapid determination of cerebrospinal fluid. (CSF) glucose and lactate is required by emergency rooms and intensive care units. Long turnaround time (TAT) on test results negatively impacts timely diagnosis and treatment of neurological infections like meningitis.
View Article and Find Full Text PDFCell Rep Med
January 2025
Department of Endocrinology and Metabolism, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghhai Clinical Center for Diabetes, Shanghai Key Clinical Center for Metabolic Disease, Shanghai 200233, China. Electronic address:
The effectiveness of established biomarkers for non-alcoholic fatty liver disease (NAFLD) within the updated framework of steatotic liver disease (SLD) remains uncertain. This cohort study examines the association of four metabolic biomarkers-retinol-binding protein 4 (RBP-4), fibroblast growth factor 21 (FGF-21), adiponectin, and osteocalcin-with SLD and its subtypes: metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction with alcohol-related liver disease (MetALD)/alcohol-related liver disease (ALD). Among 3,504 Chinese participants aged 55-70, 938 (26.
View Article and Find Full Text PDFArch Med Res
January 2025
Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, South Korea; Center for Precision Medicine and Genomics, Wonju Severance Christian Hospital, Wonju, South Korea. Electronic address:
Background: Lymphoma is a common hematological malignancy with diverse morphological and immunophenotypic characteristics that may affect treatment and outcomes. Thus, accurate differential diagnosis is crucial, and molecular genetic testing is valuable. We aimed to investigate the genetic characteristics of Korean patients with lymphoma using a next-generation sequencing (NGS)-based targeted panel.
View Article and Find Full Text PDFPathol Res Pract
December 2024
Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Precision Pathology of Neoplasia Research Group, Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. Electronic address:
Background And Aims: Follicular-patterned thyroid tumors (FPTTs) are frequently encountered in thyroid pathology, encompassing follicular adenoma (FA), follicular thyroid carcinoma (FTC), noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), and follicular variant of papillary thyroid carcinoma (fvPTC). Recently, a distinct entity termed differentiated high-grade thyroid carcinoma has been described by the 5th edition of the WHO classification of the thyroid tumors, categorized as either high-grade fvPTC, high-grade FTC or high-grade oncocytic carcinoma of the thyroid (OCA). Accurate differentiation among these lesions, particular between the benign (FA), borderline (NIFTP) and malignant neoplasms (FTC and fvPTC), remains a challenge in both histopathological and cytological diagnoses.
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