Changes for page Methodology
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... ... @@ -1,109 +1,121 @@ 1 - ===**Overview**===1 +**Neurodiagnoses AI** is an open-source, AI-driven framework designed to enhance the diagnosis and prognosis of central nervous system (CNS) disorders. Building upon the Florey Dementia Index (FDI) methodology, it now encompasses a broader spectrum of neurological conditions. The system integrates multimodal data sources—including EEG, neuroimaging, biomarkers, and genetics—and employs machine learning models to deliver explainable, real-time diagnostic insights. A key feature of this framework is the incorporation of the **Generalized Neuro Biomarker Ontology Categorization (Neuromarker)**, which standardizes biomarker classification across all neurodegenerative diseases, facilitating cross-disease AI training. 2 2 3 - This section describes the step-by-step process used in the**Neurodiagnoses** project to develop a novel diagnostic frameworkfor neurologicaldiseases. The methodology integrates artificialntelligence (AI), biomedicalontologies, and computational neuroscience to createa structured, interpretable, and scalable diagnostic system.3 +**Neuromarker: Generalized Biomarker Ontology** 4 4 5 -- ---5 +Neuromarker extends the Common Alzheimer’s Disease Research Ontology (CADRO) into a comprehensive biomarker categorization framework applicable to all neurodegenerative diseases (NDDs). This ontology enables standardized classification, AI-based feature extraction, and seamless multimodal data integration. 6 6 7 - ===**1.DataIntegration**===7 +**Recommended Software** 8 8 9 - ====**DataSources**====9 +There is a suite of software that can help implement the workflow needed in Neurodiagnoses. Find a list of recommendations [[here>>https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/recommended_software]]. 10 10 11 -* **Biomedical Ontologies**: 12 -** Human Phenotype Ontology (HPO) for phenotypic abnormalities. 13 -** Gene Ontology (GO) for molecular and cellular processes. 14 -* **Neuroimaging Datasets**: 15 -** Example: Alzheimer’s Disease Neuroimaging Initiative (ADNI), OpenNeuro. 16 -* **Clinical and Biomarker Data**: 17 -** Anonymized clinical reports, molecular biomarkers, and test results. 11 +**Core Biomarker Categories** 18 18 13 +Within the Neurodiagnoses AI framework, biomarkers are categorized as follows: 19 19 20 -==== **Data Preprocessing** ==== 15 +|=**Category**|=**Description** 16 +|**Molecular Biomarkers**|Omics-based markers (genomic, transcriptomic, proteomic, metabolomic, lipidomic) 17 +|**Neuroimaging Biomarkers**|Structural (MRI, CT), Functional (fMRI, PET), Molecular Imaging (tau, amyloid, α-synuclein) 18 +|**Fluid Biomarkers**|CSF, plasma, blood-based markers for tau, amyloid, α-synuclein, TDP-43, GFAP, NfL, autoantiboides 19 +|**Neurophysiological Biomarkers**|EEG, MEG, evoked potentials (ERP), sleep-related markers 20 +|**Digital Biomarkers**|Gait analysis, cognitive/speech biomarkers, wearables data, EHR-based markers 21 +|**Clinical Phenotypic Markers**|Standardized clinical scores (MMSE, MoCA, CDR, UPDRS, ALSFRS, UHDRS) 22 +|**Genetic Biomarkers**|Risk alleles (APOE, LRRK2, MAPT, C9orf72, PRNP) and polygenic risk scores 23 +|**Environmental & Lifestyle Factors**|Toxins, infections, diet, microbiome, comorbidities 21 21 22 -1. **Standardization**: Ensure all data sources are normalized to a common format. 23 -1. **Feature Selection**: Identify relevant features for diagnosis (e.g., biomarkers, imaging scores). 24 -1. **Data Cleaning**: Handle missing values and remove duplicates. 25 +**Integrating External Databases into Neurodiagnoses** 25 25 26 - ----27 +To enhance diagnostic precision, Neurodiagnoses AI incorporates data from multiple biomedical and neurological research databases. Researchers can integrate external datasets by following these steps: 27 27 28 -=== **2. AI-Based Analysis** === 29 +1. ((( 30 +**Register for Access** 29 29 30 -==== **Model Development** ==== 32 +* Each external database requires individual registration and access approval. 33 +* Ensure compliance with ethical approvals and data usage agreements before integrating datasets into Neurodiagnoses. 34 +* Some repositories may require a Data Usage Agreement (DUA) for sensitive medical data. 35 +))) 36 +1. ((( 37 +**Download & Prepare Data** 31 31 32 -* **Embedding Models**: Use pre-trained models like BioBERT or BioLORD for text data. 33 -* **Classification Models**: 34 -** Algorithms: Random Forest, Support Vector Machines (SVM), or neural networks. 35 -** Purpose: Predict the likelihood of specific neurological conditions based on input data. 39 +* Download datasets while adhering to database usage policies. 40 +* ((( 41 +Ensure files meet Neurodiagnoses format requirements: 36 36 37 -==== **Dimensionality Reduction and Interpretability** ==== 43 +|=**Data Type**|=**Accepted Formats** 44 +|**Tabular Data**|.csv, .tsv 45 +|**Neuroimaging**|.nii, .dcm 46 +|**Genomic Data**|.fasta, .vcf 47 +|**Clinical Metadata**|.json, .xml 48 +))) 49 +* ((( 50 +**Mandatory Fields for Integration**: 38 38 39 -* Leverage [[DEIBO>>https://drive.ebrains.eu/f/8d7157708cde4b258db0/]] (Data-driven Embedding Interpretation Based on Ontologies) to connect model dimensions to ontology concepts. 40 -* Evaluate interpretability using metrics like the Area Under the Interpretability Curve (AUIC). 52 +* Subject ID: Unique patient identifier 53 +* Diagnosis: Standardized disease classification 54 +* Biomarkers: CSF, plasma, or imaging biomarkers 55 +* Genetic Data: Whole-genome or exome sequencing 56 +* Neuroimaging Metadata: MRI/PET acquisition parameters 57 +))) 58 +))) 59 +1. ((( 60 +**Upload Data to Neurodiagnoses** 41 41 42 ----- 62 +* ((( 63 +**Option 1: Upload to EBRAINS Bucket** 43 43 44 -=== **3. Diagnostic Framework** === 65 +* Location: EBRAINS Neurodiagnoses Bucket 66 +* Ensure correct metadata tagging before submission. 67 +))) 68 +* ((( 69 +**Option 2: Contribute via GitHub Repository** 45 45 46 -==== **Axes of Diagnosis** ==== 71 +* Location: GitHub Data Repository 72 +* Create a new folder under /data/ and include a dataset description. 73 +* For large datasets, contact project administrators before uploading. 74 +))) 75 +))) 76 +1. ((( 77 +**Integrate Data into AI Models** 47 47 48 -The framework organizes diagnostic data into three axes: 79 +* Open Jupyter Notebooks on EBRAINS to run preprocessing scripts. 80 +* Standardize neuroimaging and biomarker formats using harmonization tools. 81 +* Utilize machine learning models to handle missing data and feature extraction. 82 +* Train AI models with newly integrated patient cohorts. 49 49 50 -1. **Etiology**: Genetic and environmental risk factors. 51 -1. **Molecular Markers**: Biomarkers such as amyloid-beta, tau, and alpha-synuclein. 52 -1. **Neuroanatomical Correlations**: Results from neuroimaging (e.g., MRI, PET). 84 +**Reference**: See docs/data_processing.md for detailed instructions. 85 +))) 53 53 54 - ====**RecommendationSystem**====87 +**AI-Driven Biomarker Categorization** 55 55 56 -* Suggests additional tests or biomarkers if gaps are detected in the data. 57 -* Prioritizes tests based on clinical impact and cost-effectiveness. 89 +Neurodiagnoses employs advanced AI models for biomarker classification: 58 58 59 ----- 91 +|=**Model Type**|=**Application** 92 +|**Graph Neural Networks (GNNs)**|Identify shared biomarker pathways across diseases 93 +|**Contrastive Learning**|Distinguish overlapping vs. unique biomarkers 94 +|**Multimodal Transformer Models**|Integrate imaging, omics, and clinical data 60 60 61 - ===**4.ComputationalWorkflow**===96 +**Collaboration & Partnerships** 62 62 63 -1. **Data Loading**: Import data from storage (Drive or Bucket). 64 -1. **Feature Engineering**: Generate derived features from the raw data. 65 -1. **Model Training**: 66 -1*. Split data into training, validation, and test sets. 67 -1*. Train models with cross-validation to ensure robustness. 68 -1. **Evaluation**: 69 -1*. Metrics: Accuracy, F1-Score, AUIC for interpretability. 70 -1*. Compare against baseline models and domain benchmarks. 98 +Neurodiagnoses actively seeks partnerships with data providers to: 71 71 72 ----- 100 +* Enable API-based data integration for real-time processing. 101 +* Co-develop harmonized AI-ready datasets with standardized annotations. 102 +* Secure funding opportunities through joint grant applications. 73 73 74 - ===**5.Validation**===104 +**Interested in Partnering?** 75 75 76 - ==== **InternalValidation**====106 +If you represent a research consortium or database provider, reach out to explore data-sharing agreements. 77 77 78 -* Test the system using simulated datasets and known clinical cases. 79 -* Fine-tune models based on validation results. 108 +**Contact**: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]] 80 80 81 - ====**ExternalValidation**====110 +**Final Notes** 82 82 83 -* Collaborate with research institutions and hospitals to test the system in real-world settings. 84 -* Use anonymized patient data to ensure privacy compliance. 112 +Neurodiagnoses AI is committed to advancing the integration of artificial intelligence in neurodiagnostic processes. By continuously expanding our data ecosystem and incorporating standardized biomarker classifications through the Neuromarker ontology, we aim to enhance cross-disease AI training and improve diagnostic accuracy across neurodegenerative disorders. 85 85 86 - ----114 +We encourage researchers and institutions to contribute new datasets and methodologies to further enrich this collaborative platform. Your participation is vital in driving innovation and fostering a deeper understanding of complex neurological conditions. 87 87 88 - ===**6.CollaborativeDevelopment**===116 +**For additional technical documentation and collaboration opportunities:** 89 89 90 -The project is open to contributions from researchers, clinicians, and developers. Key tools include: 118 +* **GitHub Repository:** [[Neurodiagnoses GitHub>>url:https://github.com/neurodiagnoses]] 119 +* **EBRAINS Collaboration Page:** [[EBRAINS Neurodiagnoses>>url:https://ebrains.eu/collabs/neurodiagnoses]] 91 91 92 -* **Jupyter Notebooks**: For data analysis and pipeline development. 93 -** Example: [[probabilistic imputation>>https://drive.ebrains.eu/f/4f69ab52f7734ef48217/]] 94 -* **Wiki Pages**: For documenting methods and results. 95 -* **Drive and Bucket**: For sharing code, data, and outputs. 96 -* **Collaboration with related projects: **For instance: [[//Beyond the hype: AI in dementia – from early risk detection to disease treatment//>>https://www.lethe-project.eu/beyond-the-hype-ai-in-dementia-from-early-risk-detection-to-disease-treatment/]] 97 - 98 ----- 99 - 100 -=== **7. Tools and Technologies** === 101 - 102 -* **Programming Languages**: Python for AI and data processing. 103 -* **Frameworks**: 104 -** TensorFlow and PyTorch for machine learning. 105 -** Flask or FastAPI for backend services. 106 -* **Visualization**: Plotly and Matplotlib for interactive and static visualizations. 107 -* **EBRAINS Services**: 108 -** Collaboratory Lab for running Notebooks. 109 -** Buckets for storing large datasets. 121 +If you encounter any issues during data integration or have suggestions for improvement, please open a GitHub Issue or consult the EBRAINS Neurodiagnoses Forum. Together, we can advance the field of neurodiagnostics and contribute to better patient outcomes.
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