A prospective study of MMR status detection in colorectal cancer based on deep learning artificial intelligence diagnosis versus immunohistochemistry
Ontology highlight
ABSTRACT:
DISEASE(S): Colorectal Cancer
PROVIDER: 114063 | ecrin-mdr-crc |
REPOSITORIES: ECRIN MDR
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Project description:Interventions: Gold Standard:Pathological diagnosis;Index test:Construction of colorectal cancer genomics artificial intelligence system basing on deep learning model
Primary outcome(s): Gene expression;SEN, SPE, ACC, AUC of ROC
Study Design: Factorial
| 2694323 | ecrin-mdr-crc
Project description:Ion channels are linked to important cellular processes. For more than half a century, we have been learning various structural and functional aspects of ion channels using biological, physiological, biochemical, and biophysical principles and techniques. In recent days, bioinformaticians and biophysicists having the necessary expertise and interests in computer science techniques including versatile algorithms have started covering a multitude of physiological aspects including especially evolution, mutations, and genomics of functional channels and channel subunits. In these focused research areas, the use of artificial intelligence (AI), machine learning (ML), and deep learning (DL) algorithms and associated models have been found very popular. With the help of available articles and information, this review provide an introduction to this novel research trend. Ion channel understanding is usually made considering the structural and functional perspectives, gating mechanisms, transport properties, channel protein mutations, etc. Focused research on ion channels and related findings over many decades accumulated huge data which may be utilized in a specialized scientific manner to fast conclude pinpointed aspects of channels. AI, ML, and DL techniques and models may appear as helping tools. This review aims at explaining the ways we may use the bioinformatics techniques and thus draw a few lines across the avenue to let the ion channel features appear clearer.
| S-EPMC8467682 | biostudies-literature
Project description:AI is a broad concept, grouping initiatives that use a computer to perform tasks that would usually require a human to complete. AI methods are well suited to predict clinical outcomes. In practice, AI methods can be thought of as functions that learn the outcomes accompanying standardized input data to produce accurate outcome predictions when trialed with new data. Current methods for cleaning, creating, accessing, extracting, augmenting, and representing data for training AI clinical prediction models are well defined. The use of AI to predict clinical outcomes is a dynamic and rapidly evolving arena, with new methods and applications emerging. Extraction or accession of electronic health care records and combining these with patient genetic data is an area of present attention, with tremendous potential for future growth. Machine learning approaches, including decision tree methods of Random Forest and XGBoost, and deep learning techniques including deep multi-layer and recurrent neural networks, afford unique capabilities to accurately create predictions from high dimensional, multimodal data. Furthermore, AI methods are increasing our ability to accurately predict clinical outcomes that previously were difficult to model, including time-dependent and multi-class outcomes. Barriers to robust AI-based clinical outcome model deployment include changing AI product development interfaces, the specificity of regulation requirements, and limitations in ensuring model interpretability, generalizability, and adaptability over time.
| S-EPMC8786279 | biostudies-literature
Project description:Three-dimensional integrated circuit (3D IC) technologies have been receiving much attention recently due to the near-ending of Moore's law of minimization in 2D IC. However, the reliability of 3D IC, which is greatly influenced by voids and failure in interconnects during the fabrication processes, typically requires slow testing and relies on human's judgement. Thus, the growing demand for 3D IC has generated considerable attention on the importance of reliability analysis and failure prediction. This research conducts 3D X-ray tomographic images combining with AI deep learning based on a convolutional neural network (CNN) for non-destructive analysis of solder interconnects. By training the AI machine using a reliable database of collected images, the AI can quickly detect and predict the interconnect operational faults of solder joints with an accuracy of up to 89.9% based on non-destructive 3D X-ray tomographic images. The important features which determine the "Good" or "Failure" condition for a reflowed microbump, such as area loss percentage at the middle cross-section, are also revealed.
| S-EPMC9035975 | biostudies-literature
Project description:Endometrial cancer had a relatively high prevalence of MMR deficiency. MMR-D/MSI-H endometrial cancer patients are suggested to be potential beneficiaries of PD-1/PD-L1 inhibitor therapy. Here, we explored the prognostic value of MSI subtype in endometrial cancer and its correlation with immune environment. Based on expression and clinical data of 78 POLE, 123 MSI and 299 Other EC samples from the TCGA-UCEC project, we found that the MSI tumors were identified more often in early stage, had a lower age, better patient survival, enriched CD8+ T cells, and regulatory T cells and less M2 macrophages and activated dendritic cells than the Other group, and shared a relatively similar expression profile with POLE group by differential analysis. In addition, we established the immune landscape of an MMR-D endometrial cancer tissue using unbiased single-cell RNA-seq analysis of 3371 cells. By immunohistochemistry analysis, we found that the MMR-D tumors showed a higher trend of CD20+ B cells infiltration. Our study might expand our understanding of the role of immune subsets in MSI endometrial carcinomas and provide guidance of immunotherapy for endometrial cancer.
2022-03-09 | GSE193430 | GEO
Project description:The development of digital pathology and progression of state-of-the-art algorithms for computer vision have led to increasing interest in the use of artificial intelligence (AI), especially deep learning (DL)-based AI, in tumor pathology. The DL-based algorithms have been developed to conduct all kinds of work involved in tumor pathology, including tumor diagnosis, subtyping, grading, staging, and prognostic prediction, as well as the identification of pathological features, biomarkers and genetic changes. The applications of AI in pathology not only contribute to improve diagnostic accuracy and objectivity but also reduce the workload of pathologists and subsequently enable them to spend additional time on high-level decision-making tasks. In addition, AI is useful for pathologists to meet the requirements of precision oncology. However, there are still some challenges relating to the implementation of AI, including the issues of algorithm validation and interpretability, computing systems, the unbelieving attitude of pathologists, clinicians and patients, as well as regulators and reimbursements. Herein, we present an overview on how AI-based approaches could be integrated into the workflow of pathologists and discuss the challenges and perspectives of the implementation of AI in tumor pathology.
| S-EPMC7170661 | biostudies-literature
Project description:PurposeTo present fully automated DL-based prostate cancer detection system for prostate MRI.MethodsMRI scans from two institutions, were used for algorithm training, validation, testing. MRI-visible lesions were contoured by an experienced radiologist. All lesions were biopsied using MRI-TRUS-guidance. Lesions masks, histopathological results were used as ground truth labels to train UNet, AH-Net architectures for prostate cancer lesion detection, segmentation. Algorithm was trained to detect any prostate cancer ≥ ISUP1. Detection sensitivity, positive predictive values, mean number of false positive lesions per patient were used as performance metrics.Results525 patients were included for training, validation, testing of the algorithm. Dataset was split into training (n = 368, 70%), validation (n = 79, 15%), test (n = 78, 15%) cohorts. Dice coefficients in training, validation sets were 0.403, 0.307, respectively, for AHNet model compared to 0.372, 0.287, respectively, for UNet model. In validation set, detection sensitivity was 70.9%, PPV was 35.5%, mean number of false positive lesions/patient was 1.41 (range 0-6) for UNet model compared to 74.4% detection sensitivity, 47.8% PPV, mean number of false positive lesions/patient was 0.87 (range 0-5) for AHNet model. In test set, detection sensitivity for UNet was 72.8% compared to 63.0% for AHNet, mean number of false positive lesions/patient was 1.90 (range 0-7), 1.40 (range 0-6) in UNet, AHNet models, respectively.ConclusionWe developed a DL-based AI approach which predicts prostate cancer lesions at biparametric MRI with reasonable performance metrics. While false positive lesion calls remain as a challenge of AI-assisted detection algorithms, this system can be utilized as an adjunct tool by radiologists.
| S-EPMC10506420 | biostudies-literature
Project description:PurposeTo investigate the correlation between choroidal thickness and myopia progression using a deep learning method.MethodsTwo data sets, data set A and data set B, comprising of 123 optical coherence tomography (OCT) volumes, were collected to establish the model and verify its clinical utility. The proposed mask region-based convolutional neural network (R-CNN) model, trained with the pretrained weights from the Common Objects in Context database as well as the manually labeled OCT images from data set A, was used to automatically segment the choroid. To verify its clinical utility, the mask R-CNN model was tested with data set B, and the choroidal thickness estimated by the model was also used to explore its relationship with myopia.ResultsCompared with the result of manual segmentation in data set B, the error of the automatic choroidal inner and outer boundary segmentation was 6.72 ± 2.12 and 13.75 ± 7.57 µm, respectively. The mean dice coefficient between the region segmented by automatic and manual methods was 93.87% ± 2.89%. The mean difference in choroidal thickness over the Early Treatment Diabetic Retinopathy Study zone between the two methods was 10.52 µm. Additionally, the choroidal thickness estimated using the proposed model was thinner in high-myopic eyes, and axial length was the most significant predictor.ConclusionsThe mask R-CNN model has excellent performance in choroidal segmentation and quantification. In addition, the choroid of high myopia is significantly thinner than that of nonhigh myopia.Translational relevanceThis work lays the foundations for mask R-CNN models that could aid in the evaluation of more intricate changes occurring in chorioretinal diseases.
| S-EPMC8883159 | biostudies-literature
Project description:The etiology of cerebral palsy (CP) is complex and remains inadequately understood. Early detection of CP is an important clinical objective as this improves long term outcomes. We performed genome-wide DNA methylation analysis to identify epigenomic predictors of CP in newborns and to investigate disease pathogenesis. Methylation analysis of newborn blood DNA using an Illumina HumanMethylation450K array was performed in 23 CP cases and 21 unaffected controls. There were 230 significantly differentially-methylated CpG loci in 258 genes. Each locus had at least 2.0-fold change in methylation in CP versus controls with a FDR p-value ? 0.05. Methylation level for each CpG locus had an area under the receiver operating curve (AUC) ? 0.75 for CP detection. Using Artificial Intelligence (AI) platforms/Machine Learning (ML) analysis, CpG methylation levels in a combination of 230 significantly differentially-methylated CpG loci in 258 genes had a 95% sensitivity and 94.4% specificity for newborn prediction of CP. Using pathway analysis, multiple canonical pathways plausibly linked to neuronal function were over-represented. Altered biological processes and functions included: neuromotor damage, malformation of major brain structures, brain growth, neuroprotection, neuronal development and de-differentiation, and cranial sensory neuron development. In conclusion, blood leucocyte epigenetic changes analyzed using AI/ML techniques appeared to accurately predict CP and provided plausible mechanistic information on CP pathogenesis.
| S-EPMC6539236 | biostudies-literature
Project description:MMR defects study in mCRPC using targeted DNA repair panel
| PRJEB27287 | ENA