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1 1  == **Overview** ==
2 2  
3 -Neurodiagnoses develops a tridimensional diagnostic framework for CNS diseases, incorporating AI-powered annotation tools to improve interpretability, standardization, and clinical utility. The methodology integrates multi-modal data, including genetic, neuroimaging, neurophysiological, and biomarker datasets, and applies machine learning models to generate structured, explainable diagnostic outputs.
3 +Neurodiagnoses develops a **tridimensional diagnostic framework** for **CNS diseases**, incorporating **AI-powered annotation tools** to improve **interpretability, standardization, and clinical utility.**
4 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 +
5 5  ----
6 6  
7 -== **How to Use External Databases in Neurodiagnoses** ==
15 +== **Data Integration & External Databases** ==
8 8  
9 -To enhance the accuracy of our diagnostic models, Neurodiagnoses integrates data from multiple biomedical and neurological research databases. If you are a researcher, follow these steps to access, prepare, and integrate data into the Neurodiagnoses framework.
17 +=== **How to Use External Databases in Neurodiagnoses** ===
10 10  
11 -=== **Potential Data Sources** ===
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.
12 12  
13 -Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases.
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]]
14 14  
15 -* Reference: [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]]
24 +=== **Register for Access** ===
16 16  
17 -=== **1. Register for Access** ===
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).**
18 18  
19 -Each external database requires individual registration and access approval. Follow the official guidelines of each database provider.
30 +=== **Download & Prepare Data** ===
20 20  
21 -* Ensure that you have completed all ethical approvals and data access agreements before integrating datasets into Neurodiagnoses.
22 -* Some repositories require a Data Usage Agreement (DUA) before downloading sensitive medical data.
32 +Once access is granted, download datasets **following compliance guidelines** and **format requirements** for integration.
23 23  
24 -=== **2. Download & Prepare Data** ===
34 +**Supported File Formats**
25 25  
26 -Once access is granted, download datasets while complying with data usage policies. Ensure that the files meet Neurodiagnoses’ format requirements for smooth integration.
36 +* **Tabular Data**: .csv, .tsv
37 +* **Neuroimaging Data**: .nii, .dcm
38 +* **Genomic Data**: .fasta, .vcf
39 +* **Clinical Metadata**: .json, .xml
27 27  
28 -==== **Supported File Formats** ====
41 +**Mandatory Fields for Integration**
29 29  
30 -* Tabular Data: .csv, .tsv
31 -* Neuroimaging Data: .nii, .dcm
32 -* Genomic Data: .fasta, .vcf
33 -* Clinical Metadata: .json, .xml
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
34 34  
35 -==== **Mandatory Fields for Integration** ====
50 +=== **Upload Data to Neurodiagnoses** ===
36 36  
37 -|=Field Name|=Description
38 -|Subject ID|Unique patient identifier
39 -|Diagnosis|Standardized disease classification
40 -|Biomarkers|CSF, plasma, or imaging biomarkers
41 -|Genetic Data|Whole-genome or exome sequencing
42 -|Neuroimaging Metadata|MRI/PET acquisition parameters
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]]
43 43  
44 -=== **3. Upload Data to Neurodiagnoses** ===
55 +**For large datasets, please contact project administrators before uploading.**
45 45  
46 -Once preprocessed, data can be uploaded to EBRAINS or GitHub.
57 +=== **Integrate Data into AI Models** ===
47 47  
48 -* (((
49 -**Option 1: Upload to EBRAINS Bucket**
59 +Use **Jupyter Notebooks** on EBRAINS for **data preprocessing.**
60 +Standardize data using **harmonization tools.**
61 +Train AI models with **newly integrated datasets.**
50 50  
51 -* Location: [[EBRAINS Neurodiagnoses Bucket>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Bucket]]
52 -* Ensure correct metadata tagging before submission.
53 -)))
54 -* (((
55 -**Option 2: Contribute via GitHub Repository**
63 +**Reference:** [[Data Processing Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]]
56 56  
57 -* Location: [[GitHub Data Repository>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/tree/main/data]]
58 -* Create a new folder under /data/ and include dataset description.
59 -)))
65 +----
60 60  
61 -//Note: For large datasets, please contact the project administrators before uploading.//
67 +== **AI-Powered Annotation & Machine Learning Models** ==
62 62  
63 -=== **4. Integrate Data into AI Models** ===
69 +Neurodiagnoses applies **advanced machine learning models** to classify CNS diseases, extract features from **biomarkers and neuroimaging**, and provide **AI-powered annotation.**
64 64  
65 -Once uploaded, datasets must be harmonized and formatted before AI model training.
71 +=== **AI Model Categories** ===
66 66  
67 -==== **Steps for Data Integration** ====
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
68 68  
69 -* Open Jupyter Notebooks on EBRAINS to run preprocessing scripts.
70 -* Standardize neuroimaging and biomarker formats using harmonization tools.
71 -* Use machine learning models to handle missing data and feature extraction.
72 -* Train AI models with newly integrated patient cohorts.
73 -* Reference: [[Detailed instructions can be found in docs/data_processing.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]].
80 +**Reference:** [[AI Model Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/models.md]]
74 74  
75 75  ----
76 76  
77 -== **Database Sources Table** ==
84 +== **Clinical Decision Support & Tridimensional Diagnostic Framework** ==
78 78  
79 -=== **Where to Insert This** ===
86 +Neurodiagnoses generates **structured AI reports** for clinicians, combining:
80 80  
81 -* GitHub: [[docs/data_sources.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_sources.md]]
82 -* EBRAINS Wiki: Collabs/neurodiagnoses/Data Sources
88 +**Probabilistic Diagnosis:** AI-generated ranking of potential diagnoses.
89 +**Tridimensional Classification:** Standardized diagnostic reports based on:
83 83  
84 -=== **Key Databases for Neurodiagnoses** ===
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.
85 85  
86 -|=Database|=Focus Area|=Data Type|=Access Link
87 -|ADNI|Alzheimer's Disease|MRI, PET, CSF, cognitive tests|ADNI
88 -|PPMI|Parkinson’s Disease|Imaging, biospecimens|[[PPMI>>url:https://www.ppmi-info.org/]]
89 -|GP2|Genetic Data for PD|Whole-genome sequencing|[[GP2>>url:https://gp2.org/]]
90 -|Enroll-HD|Huntington’s Disease|Clinical, genetic, imaging|[[Enroll-HD>>url:https://enroll-hd.org/]]
91 -|GAAIN|Alzheimer's & Cognitive Decline|Multi-source data aggregation|[[GAAIN>>url:https://www.gaain.org/]]
92 -|UK Biobank|Population-wide studies|Genetic, imaging, health records|[[UK Biobank>>url:https://www.ukbiobank.ac.uk/]]
93 -|DPUK|Dementia & Aging|Imaging, genetics, lifestyle factors|[[DPUK>>url:https://www.dementiasplatform.uk/]]
94 -|PRION Registry|Prion Diseases|Clinical and genetic data|[[PRION Registry>>url:https://www.prionalliance.org/]]
95 -|DECIPHER|Rare Genetic Disorders|Genomic variants|DECIPHER
95 +**Reference:** [[Tridimensional Classification Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/classification.md]]
96 96  
97 -If you know a relevant dataset, submit a proposal in [[GitHub Issues>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/issues]].
98 -
99 99  ----
100 100  
101 -== **Collaboration & Partnerships** ==
99 +== **Data Security, Compliance & Federated Learning** ==
102 102  
103 -=== **Where to Insert This** ===
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.
104 104  
105 -* GitHub: [[docs/collaboration.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/collaboration.md]]
106 -* EBRAINS Wiki: Collabs/neurodiagnoses/Collaborations
105 +**Reference:** [[Data Protection & Federated Learning>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/security.md]]
107 107  
108 -=== **Partnering with Data Providers** ===
107 +----
109 109  
110 -Beyond using existing datasets, Neurodiagnoses seeks partnerships with data repositories to:
109 +== **Data Processing & Integration with Clinica.Run** ==
111 111  
112 -* Enable direct API-based data integration for real-time processing.
113 -* Co-develop harmonized AI-ready datasets with standardized annotations.
114 -* Secure funding opportunities through joint grant applications.
111 +Neurodiagnoses now supports **Clinica.Run**, an **open-source neuroimaging platform** for **multimodal data processing.**
115 115  
116 -=== **Interested in Partnering?** ===
113 +=== **How It Works** ===
117 117  
118 -If you represent a research consortium or database provider, reach out to explore data-sharing agreements.
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.**
119 119  
120 -* Contact: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]]
119 +=== **Implementation Steps** ===
121 121  
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 +
122 122  ----
123 123  
124 -== **Final Notes** ==
129 +== **Collaborative Development & Research** ==
125 125  
126 -Neurodiagnoses continuously expands its data ecosystem to support AI-driven clinical decision-making. Researchers and institutions are encouraged to contribute new datasets and methodologies.
131 +**We Use GitHub to Develop AI Models & Store Research Data**
127 127  
128 -For additional technical documentation:
133 +* **GitHub Repository:** AI model training scripts.
134 +* **GitHub Issues:** Tracks ongoing research questions.
135 +* **GitHub Wiki:** Project documentation & user guides.
129 129  
130 -* [[GitHub Repository>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses]]
131 -* [[EBRAINS Collaboration Page>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/]]
137 +**We Use EBRAINS for Data & Collaboration**
132 132  
133 -If you experience issues integrating data, open a [[GitHub Issue>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/issues]] or consult the EBRAINS Neurodiagnoses Forum.
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!**