Wiki source code of Methodology
Version 17.1 by manuelmenendez on 2025/02/09 13:01
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1 | == **Overview** == | ||
2 | |||
3 | Neurodiagnoses develops a **tridimensional diagnostic framework** for **CNS diseases**, incorporating **AI-powered annotation tools** to improve **interpretability, standardization, and clinical utility.** | ||
4 | |||
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). | ||
10 | |||
11 | By applying **machine learning models**, Neurodiagnoses generates **structured, explainable diagnostic outputs** to assist **clinical decision-making** and **biomarker-driven patient stratification.** | ||
12 | |||
13 | ---- | ||
14 | |||
15 | == **Data Integration & External Databases** == | ||
16 | |||
17 | === **How to Use External Databases in Neurodiagnoses** === | ||
18 | |||
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. | ||
20 | |||
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]] | ||
23 | |||
24 | === **Register for Access** === | ||
25 | |||
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).** | ||
29 | |||
30 | === **Download & Prepare Data** === | ||
31 | |||
32 | Once access is granted, download datasets **following compliance guidelines** and **format requirements** for integration. | ||
33 | |||
34 | **Supported File Formats** | ||
35 | |||
36 | * **Tabular Data**: .csv, .tsv | ||
37 | * **Neuroimaging Data**: .nii, .dcm | ||
38 | * **Genomic Data**: .fasta, .vcf | ||
39 | * **Clinical Metadata**: .json, .xml | ||
40 | |||
41 | **Mandatory Fields for Integration** | ||
42 | |||
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 | ||
49 | |||
50 | === **Upload Data to Neurodiagnoses** === | ||
51 | |||
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]] | ||
54 | |||
55 | **For large datasets, please contact project administrators before uploading.** | ||
56 | |||
57 | === **Integrate Data into AI Models** === | ||
58 | |||
59 | Use **Jupyter Notebooks** on EBRAINS for **data preprocessing.** | ||
60 | Standardize data using **harmonization tools.** | ||
61 | Train AI models with **newly integrated datasets.** | ||
62 | |||
63 | **Reference:** [[Data Processing Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]] | ||
64 | |||
65 | ---- | ||
66 | |||
67 | == **AI-Powered Annotation & Machine Learning Models** == | ||
68 | |||
69 | Neurodiagnoses applies **advanced machine learning models** to classify CNS diseases, extract features from **biomarkers and neuroimaging**, and provide **AI-powered annotation.** | ||
70 | |||
71 | === **AI Model Categories** === | ||
72 | |||
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 | ||
79 | |||
80 | **Reference:** [[AI Model Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/models.md]] | ||
81 | |||
82 | ---- | ||
83 | |||
84 | == **Clinical Decision Support & Tridimensional Diagnostic Framework** == | ||
85 | |||
86 | Neurodiagnoses generates **structured AI reports** for clinicians, combining: | ||
87 | |||
88 | **Probabilistic Diagnosis:** AI-generated ranking of potential diagnoses. | ||
89 | **Tridimensional Classification:** Standardized diagnostic reports based on: | ||
90 | |||
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. | ||
94 | |||
95 | **Reference:** [[Tridimensional Classification Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/classification.md]] | ||
96 | |||
97 | ---- | ||
98 | |||
99 | == **Data Security, Compliance & Federated Learning** == | ||
100 | |||
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. | ||
104 | |||
105 | **Reference:** [[Data Protection & Federated Learning>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/security.md]] | ||
106 | |||
107 | ---- | ||
108 | |||
109 | == **Data Processing & Integration with Clinica.Run** == | ||
110 | |||
111 | Neurodiagnoses now supports **Clinica.Run**, an **open-source neuroimaging platform** for **multimodal data processing.** | ||
112 | |||
113 | === **How It Works** === | ||
114 | |||
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.** | ||
118 | |||
119 | === **Implementation Steps** === | ||
120 | |||
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. | ||
124 | |||
125 | **Reference:** [[Clinica.Run Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/clinica_run.md]] | ||
126 | |||
127 | ---- | ||
128 | |||
129 | == **Collaborative Development & Research** == | ||
130 | |||
131 | **We Use GitHub to Develop AI Models & Store Research Data** | ||
132 | |||
133 | * **GitHub Repository:** AI model training scripts. | ||
134 | * **GitHub Issues:** Tracks ongoing research questions. | ||
135 | * **GitHub Wiki:** Project documentation & user guides. | ||
136 | |||
137 | **We Use EBRAINS for Data & Collaboration** | ||
138 | |||
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. | ||
142 | |||
143 | **Join the Project Forum:** [[GitHub Discussions>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/discussions]] | ||
144 | |||
145 | ---- | ||
146 | |||
147 | **For Additional Documentation:** | ||
148 | |||
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/]] | ||
151 | |||
152 | ---- | ||
153 | |||
154 | **Neurodiagnoses is Open for Contributions – Join Us Today!** |