Wiki source code of Methodology
Version 17.1 by manuelmenendez on 2025/02/09 13:01
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15.1 | 1 | == **Overview** == |
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1.1 | 2 | |
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17.1 | 3 | Neurodiagnoses develops a **tridimensional diagnostic framework** for **CNS diseases**, incorporating **AI-powered annotation tools** to improve **interpretability, standardization, and clinical utility.** |
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1.1 | 4 | |
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17.1 | 5 | This methodology integrates **multi-modal data**, including: |
6 | **Genetic data** (whole-genome sequencing, polygenic risk scores). | ||
7 | **Neuroimaging** (MRI, PET, EEG, MEG). | ||
8 | **Neurophysiological data** (EEG-based biomarkers, sleep actigraphy). | ||
9 | **CSF & Blood Biomarkers** (Amyloid-beta, Tau, Neurofilament Light). | ||
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7.1 | 10 | |
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17.1 | 11 | By applying **machine learning models**, Neurodiagnoses generates **structured, explainable diagnostic outputs** to assist **clinical decision-making** and **biomarker-driven patient stratification.** |
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7.1 | 12 | |
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1.1 | 13 | ---- |
14 | |||
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17.1 | 15 | == **Data Integration & External Databases** == |
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1.1 | 16 | |
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17.1 | 17 | === **How to Use External Databases in Neurodiagnoses** === |
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12.2 | 18 | |
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17.1 | 19 | Neurodiagnoses integrates data from multiple **biomedical and neurological research databases**. Researchers can follow these steps to **access, prepare, and integrate** data into the Neurodiagnoses framework. |
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12.2 | 20 | |
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17.1 | 21 | **Potential Data Sources** |
22 | **Reference:** [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]] | ||
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12.2 | 23 | |
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17.1 | 24 | === **Register for Access** === |
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12.2 | 25 | |
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17.1 | 26 | Each **external database** requires **individual registration** and approval. |
27 | ✔️ Follow the official **data access guidelines** of each provider. | ||
28 | ✔️ Ensure compliance with **ethical approvals** and **data-sharing agreements (DUAs).** | ||
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12.2 | 29 | |
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17.1 | 30 | === **Download & Prepare Data** === |
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12.2 | 31 | |
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17.1 | 32 | Once access is granted, download datasets **following compliance guidelines** and **format requirements** for integration. |
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12.2 | 33 | |
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17.1 | 34 | **Supported File Formats** |
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12.2 | 35 | |
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17.1 | 36 | * **Tabular Data**: .csv, .tsv |
37 | * **Neuroimaging Data**: .nii, .dcm | ||
38 | * **Genomic Data**: .fasta, .vcf | ||
39 | * **Clinical Metadata**: .json, .xml | ||
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12.2 | 40 | |
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17.1 | 41 | **Mandatory Fields for Integration** |
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12.2 | 42 | |
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17.1 | 43 | |=**Field Name**|=**Description** |
44 | |**Subject ID**|Unique patient identifier | ||
45 | |**Diagnosis**|Standardized disease classification | ||
46 | |**Biomarkers**|CSF, plasma, or imaging biomarkers | ||
47 | |**Genetic Data**|Whole-genome or exome sequencing | ||
48 | |**Neuroimaging Metadata**|MRI/PET acquisition parameters | ||
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12.2 | 49 | |
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17.1 | 50 | === **Upload Data to Neurodiagnoses** === |
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12.2 | 51 | |
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17.1 | 52 | **Option 1:** Upload to **EBRAINS Bucket** → [[Neurodiagnoses Data Storage>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Bucket]] |
53 | **Option 2:** Contribute via **GitHub Repository** → [[GitHub Data Repository>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/tree/main/data]] | ||
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12.2 | 54 | |
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17.1 | 55 | **For large datasets, please contact project administrators before uploading.** |
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12.2 | 56 | |
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17.1 | 57 | === **Integrate Data into AI Models** === |
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12.2 | 58 | |
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17.1 | 59 | Use **Jupyter Notebooks** on EBRAINS for **data preprocessing.** |
60 | Standardize data using **harmonization tools.** | ||
61 | Train AI models with **newly integrated datasets.** | ||
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12.2 | 62 | |
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17.1 | 63 | **Reference:** [[Data Processing Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]] |
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12.2 | 64 | |
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17.1 | 65 | ---- |
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12.2 | 66 | |
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17.1 | 67 | == **AI-Powered Annotation & Machine Learning Models** == |
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12.2 | 68 | |
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17.1 | 69 | Neurodiagnoses applies **advanced machine learning models** to classify CNS diseases, extract features from **biomarkers and neuroimaging**, and provide **AI-powered annotation.** |
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12.2 | 70 | |
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17.1 | 71 | === **AI Model Categories** === |
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12.2 | 72 | |
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17.1 | 73 | |=**Model Type**|=**Function**|=**Example Algorithms** |
74 | |**Probabilistic Diagnosis**|Assigns probability scores to multiple CNS disorders.|Random Forest, XGBoost, Bayesian Networks | ||
75 | |**Tridimensional Diagnosis**|Classifies disorders based on Etiology, Biomarkers, and Neuroanatomical Correlations.|CNNs, Transformers, Autoencoders | ||
76 | |**Biomarker Prediction**|Predicts missing biomarker values using regression.|KNN Imputation, Bayesian Estimation | ||
77 | |**Neuroimaging Feature Extraction**|Extracts patterns from MRI, PET, EEG.|CNNs, Graph Neural Networks | ||
78 | |**Clinical Decision Support**|Generates AI-driven diagnostic reports.|SHAP Explainability Tools | ||
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12.2 | 79 | |
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17.1 | 80 | **Reference:** [[AI Model Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/models.md]] |
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12.2 | 81 | |
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17.1 | 82 | ---- |
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12.2 | 83 | |
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17.1 | 84 | == **Clinical Decision Support & Tridimensional Diagnostic Framework** == |
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12.2 | 85 | |
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17.1 | 86 | Neurodiagnoses generates **structured AI reports** for clinicians, combining: |
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12.2 | 87 | |
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17.1 | 88 | **Probabilistic Diagnosis:** AI-generated ranking of potential diagnoses. |
89 | **Tridimensional Classification:** Standardized diagnostic reports based on: | ||
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1.1 | 90 | |
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17.1 | 91 | 1. **Axis 1:** **Etiology** → Genetic, Autoimmune, Prion, Toxic, Vascular. |
92 | 1. **Axis 2:** **Molecular Markers** → CSF, Neuroinflammation, EEG biomarkers. | ||
93 | 1. **Axis 3:** **Neuroanatomoclinical Correlations** → MRI atrophy, PET. | ||
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12.2 | 94 | |
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17.1 | 95 | **Reference:** [[Tridimensional Classification Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/classification.md]] |
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1.1 | 96 | |
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17.1 | 99 | == **Data Security, Compliance & Federated Learning** == |
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6.1 | 100 | |
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17.1 | 101 | ✔ **Privacy-Preserving AI**: Implements **Federated Learning**, ensuring that patient data **never leaves** local institutions. |
102 | ✔ **Secure Data Access**: Data remains **stored in EBRAINS MIP servers** using **differential privacy techniques.** | ||
103 | ✔ **Ethical & GDPR Compliance**: Data-sharing agreements **must be signed** before use. | ||
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6.1 | 104 | |
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17.1 | 105 | **Reference:** [[Data Protection & Federated Learning>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/security.md]] |
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6.1 | 106 | |
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108 | |||
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17.1 | 109 | == **Data Processing & Integration with Clinica.Run** == |
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1.1 | 110 | |
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17.1 | 111 | Neurodiagnoses now supports **Clinica.Run**, an **open-source neuroimaging platform** for **multimodal data processing.** |
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1.1 | 112 | |
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17.1 | 113 | === **How It Works** === |
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1.1 | 114 | |
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17.1 | 115 | ✔ **Neuroimaging Preprocessing**: MRI, PET, EEG data is preprocessed using **Clinica.Run pipelines.** |
116 | ✔ **Automated Biomarker Extraction**: Extracts volumetric, metabolic, and functional biomarkers. | ||
117 | ✔ **Data Security & Compliance**: Clinica.Run is **GDPR & HIPAA-compliant.** | ||
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1.1 | 118 | |
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17.1 | 119 | === **Implementation Steps** === |
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1.1 | 120 | |
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17.1 | 121 | 1. Install **Clinica.Run** dependencies. |
122 | 1. Configure **Clinica.Run pipeline** in clinica_run_config.json. | ||
123 | 1. Run **biomarker extraction pipelines** for AI-based diagnostics. | ||
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6.1 | 124 | |
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17.1 | 125 | **Reference:** [[Clinica.Run Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/clinica_run.md]] |
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6.1 | 126 | |
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128 | |||
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17.1 | 129 | == **Collaborative Development & Research** == |
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1.1 | 130 | |
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17.1 | 131 | **We Use GitHub to Develop AI Models & Store Research Data** |
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1.1 | 132 | |
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17.1 | 133 | * **GitHub Repository:** AI model training scripts. |
134 | * **GitHub Issues:** Tracks ongoing research questions. | ||
135 | * **GitHub Wiki:** Project documentation & user guides. | ||
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1.1 | 136 | |
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17.1 | 137 | **We Use EBRAINS for Data & Collaboration** |
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1.1 | 138 | |
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17.1 | 139 | * **EBRAINS Buckets:** Large-scale neuroimaging and biomarker storage. |
140 | * **EBRAINS Jupyter Notebooks:** Cloud-based AI model execution. | ||
141 | * **EBRAINS Wiki:** Research documentation and updates. | ||
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1.1 | 142 | |
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17.1 | 143 | **Join the Project Forum:** [[GitHub Discussions>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/discussions]] |
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17.1 | 147 | **For Additional Documentation:** |
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1.1 | 148 | |
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17.1 | 149 | * **GitHub Repository:** [[Neurodiagnoses AI Models>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses]] |
150 | * **EBRAINS Wiki:** [[Neurodiagnoses Research Collaboration>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/]] | ||
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17.1 | 154 | **Neurodiagnoses is Open for Contributions – Join Us Today!** |