Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes
10.1038/s41467-022-33534-z
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10.1038/s41467-022-33534-z
Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different gene...
10.3389/fgene.2022.996364
Abstract: Medical biotechnology has emerged as a transformative field that integrates molecular biology, genetics, bioinformatics, nanotechnology, and biomedical engineering to improve the prevention, diagnosis, and treatment of human disea...
Abstract The Human leukocyte antigen (HLA) molecules are central to immune response and have associations with the phenotypes of various diseases and induced drug toxicity. Further, the role of HLA molecules in presenting antigens significa...
10.1038/s41598-024-53986-1
Abstract Quantum computing hardware and software have made enormous strides over the last years1. Questions around quantum computing’s impact on research and society have changed from “if” to “when/how”. The 2020s have been described as the...
https://doi.org/10.1017/qut.2023.4
This survey examines the convergence of Explainable Artificial Intelligence (XAI) and Quantum Computing (QC) toward precision medicine. We review developments from 2018 to 2025, summarizing quantum algorithms, quantum-machine-learning model...
10.1016/j.csbj.2025.11.031
Atherosclerosis (AS) is a disorder of large and medium-sized arteries; it consists in the formation of lipid-rich plaques in the intima and inner media, whose pathophysiology is mostly driven by inflammation. Currently available interventio...
10.3389/fbioe.2018.00177
Digital innovation can significantly enhance public health services, environmental sustainability, and social welfare. To this end, the European Digital Innovation Hub (EDIH) initiative was funded by the European Commission and national gov...
10.3389/fmed.2024.1503235
BackgroundHidradenitis suppurativa (HS) is a chronic inflammatory skin condition that affects hair follicles in areas with apocrine sweat glands, such as the underarms, groin, and buttocks. The pathogenesis of HS is not fully understood, bu...
10.3389/fimmu.2024.1475424
Joseph A Boscarino,1 Richard E Adams,2 Thomas G Urosevich,3 Stuart N Hoffman,4 H Lester Kirchner,1 Xin Chu,5 Weixing Shi,5 Joseph J Boscarino,6 Ryan J Dugan,1 Carrie A Withey,1 Charles R Figley7 1Department Population Health Sciences, Geisi...
Topological data analysis (TDA) has evolved into a flexible and robust paradigm for obtaining qualitative, geometry-inspired insights from high-dimensional, noisy, and complex data. Grounded in algebraic topology, geometry, statistics, and ...
10.3390/math14122205
INTRODUCTION: The radiological reading room is undergoing a paradigm shift to a symbiosis of computer science and radiology using artificial intelligence integrated with machine and deep learning with radiomics to better define tissue chara...
https://doi.org/10.1080/23808993.2019.1585805
PMC: 6508888
Deep learning (DL) is playing an increasingly important role in our lives. It has already made a huge impact in areas, such as cancer diagnosis, precision medicine, self-driving cars, predictive forecasting, and speech recognition. The pain...
https://doi.org/10.1109/access.2019.2912200
Abstract Acute myeloid leukemia (AML) remains challenging due to molecular heterogeneity and limited prognostic models integrating tumor microenvironment dynamics. While thrombocytopenia correlates with poor outcomes, the roles of platelet-...
10.1038/s41698-025-01137-8
ABSTRACT Patient outcomes in advanced renal cell carcinoma (RCC) remain poor, with five‐year survival rates ranging from ~10% to 30%. Early projections of therapeutic outcomes could optimize precision medicine and accelerate drug developmen...
10.1111/cts.70348
Summary: Mass cytometry by time-of-flight (CyTOF) is an emerging technology allowing for in-depth characterization of cellular heterogeneity in cancer and other diseases. Unfortunately, high-dimensional analyses of CyTOF data remain quite d...
10.1016/j.isci.2024.110261
Precision medicine is an emerging approach to clinical research and patient care that focuses on understanding and treating disease by integrating multi-modal or multi-omics data from an individual to make patient-tailored decisions. With t...
https://doi.org/10.1139/gen-2020-0131
Designing an optimal digital pathology workspace is essential to ensure diagnostic accuracy and safeguard the long-term well-being of pathologists. While digital pathology improves reproducibility, facilitates multidisciplinary collaboratio...
10.3390/app16126021
Abstract Ovarian cancer (OC) remains one of the most lethal gynecological malignancies globally. Despite the implementation of various medical imaging approaches for OC screening, achieving accurate differential diagnosis of ovarian tumors ...
10.1186/s40779-024-00580-1
Digital pathology (DP) is being increasingly employed in cancer diagnostics, providing additional tools for faster, higher-quality, accurate diagnosis. The practice of diagnostic pathology has gone through a staggering transformation wherei...
https://doi.org/10.1186/s13000-023-01375-z
PMC: 10546747