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... ... @@ -1,207 +1,154 @@ 1 -** # Neurodiagnoses AI: Multimodal AI for Neurodiagnostic Predictions**1 +== **Overview** == 2 2 3 -## **Project Overview** 4 -Neurodiagnoses AI implements AI-driven diagnostic and prognostic models for central nervous system (CNS) disorders, adapting the Florey Dementia Index (FDI) methodology to a broader set of neurological conditions. The approach integrates **multimodal data sources** (EEG, neuroimaging, biomarkers, and genetics) and employs **machine learning models** to provide **explainable, real-time diagnostic insights**.## 3 +Neurodiagnoses develops a **tridimensional diagnostic framework** for **CNS diseases**, incorporating **AI-powered annotation tools** to improve **interpretability, standardization, and clinical utility.** 5 5 6 -## **How to Use External Databases in Neurodiagnoses** 7 -To enhance diagnostic accuracy, 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.## 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). 8 8 9 -### **Potential Data Sources** 10 -Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. ## 11 +By applying **machine learning models**, Neurodiagnoses generates **structured, explainable diagnostic outputs** to assist **clinical decision-making** and **biomarker-driven patient stratification.** 11 11 12 -**Reference: List of Potential Databases** 13 -- **ADNI**: Alzheimer's Disease data ([ADNI](https://adni.loni.usc.edu)) 14 -- **PPMI**: Parkinson’s Disease Imaging and biospecimens ([PPMI](https://www.ppmi-info.org)) 15 -- **GP2**: Whole-genome sequencing for PD ([GP2](https://gp2.org)) 16 -- **Enroll-HD**: Huntington’s Disease Clinical and genetic data ([Enroll-HD](https://www.enroll-hd.org)) 17 -- **GAAIN**: Multi-source Alzheimer’s data aggregation ([GAAIN](https://gaain.org)) 18 -- **UK Biobank**: Population-wide genetic, imaging, and health records ([UK Biobank](https://www.ukbiobank.ac.uk)) 19 -- **DPUK**: Dementia and Aging data ([DPUK](https://www.dementiasplatform.uk)) 20 -- **PRION Registry**: Prion Diseases clinical and genetic data ([PRION Registry](https://prionregistry.org)) 21 -- **DECIPHER**: Rare genetic disorder genomic variants ([DECIPHER](https://decipher.sanger.ac.uk)) 13 +---- 22 22 23 -### **1. Register for Access** 24 -- Each external database requires **individual registration** and access approval. 25 -- Ensure compliance with **ethical approvals** and **data usage agreements** before integrating datasets into Neurodiagnoses. 26 -- Some repositories may require a **Data Usage Agreement (DUA)** for sensitive medical data.## 15 +== **Data Integration & External Databases** == 27 27 28 -### **2. Download & Prepare Data** 29 -- Download datasets while adhering to database usage policies. 30 -- Ensure files meet **Neurodiagnoses format requirements**: 31 - - **Tabular Data**: `.csv`, `.tsv` 32 - - **Neuroimaging Data**: `.nii`, `.dcm` 33 - - **Genomic Data**: `.fasta`, `.vcf` 34 - - **Clinical Metadata**: `.json`, `.xml`## 17 +=== **How to Use External Databases in Neurodiagnoses** === 35 35 36 -- **Mandatory Fields for Integration**: 37 - - **Subject ID**: Unique patient identifier 38 - - **Diagnosis**: Standardized disease classification 39 - - **Biomarkers**: CSF, plasma, or imaging biomarkers 40 - - **Genetic Data**: Whole-genome or exome sequencing 41 - - **Neuroimaging Metadata**: MRI/PET acquisition parameters 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. 42 42 43 -### **3. Upload Data to Neurodiagnoses** 44 -**Option 1: Upload to EBRAINS Bucket** 45 -- Location: **EBRAINS Neurodiagnoses Bucket** 46 -- Ensure correct **metadata tagging** before submission.## 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]] 47 47 48 - **Option 2: Contribute via GitHub Repository** 49 -- Location: **GitHub Data Repository** 50 -- Create a new folder under `/data/` and include a **dataset description**. 51 -- For large datasets, contact project administrators before uploading. 24 +=== **Register for Access** === 52 52 53 -### **4. Integrate Data into AI Models** 54 -- Open **Jupyter Notebooks** on EBRAINS to run **preprocessing scripts**. 55 -- Standardize **neuroimaging and biomarker formats** using harmonization tools. 56 -- Use **machine learning models** to handle missing data and feature extraction. 57 -- Train AI models with **newly integrated patient cohorts**.## 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).** 58 58 59 -** Reference**: See `docs/data_processing.md`fordetailedinstructions.30 +=== **Download & Prepare Data** === 60 60 61 -## **Collaboration & Partnerships**## 62 -# **Partnering with Data Providers** 63 -Neurodiagnoses seeks partnerships with data repositories to: 64 -- Enable **API-based data integration** for real-time processing. 65 -- Co-develop **harmonized AI-ready datasets** with standardized annotations. 66 -- Secure **funding opportunities** through joint grant applications. 32 +Once access is granted, download datasets **following compliance guidelines** and **format requirements** for integration. 67 67 68 -**Interested in Partnering?** 69 -- If you represent a research consortium or database provider, reach out to explore data-sharing agreements. 70 -- **Contact**: info@neurodiagnoses.com 34 +**Supported File Formats** 71 71 72 -## **Final Notes** 73 -Neurodiagnoses continuously expands its data ecosystem to support AI-driven clinical decision-making. Researchers and institutions are encouraged to contribute **new datasets and methodologies**.## 36 +* **Tabular Data**: .csv, .tsv 37 +* **Neuroimaging Data**: .nii, .dcm 38 +* **Genomic Data**: .fasta, .vcf 39 +* **Clinical Metadata**: .json, .xml 74 74 75 -For additional technical documentation: 76 -- **GitHub Repository**: [Neurodiagnoses GitHub](https://github.com/neurodiagnoses) 77 -- **EBRAINS Collaboration Page**: [EBRAINS Neurodiagnoses](https://ebrains.eu/collabs/neurodiagnoses) 41 +**Mandatory Fields for Integration** 78 78 79 -If you experience issues integrating data, **open a GitHub Issue** or consult the **EBRAINS Neurodiagnoses Forum**. 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 80 80 81 -== ** How toUse External DatabasesinNeurodiagnoses** ==50 +=== **Upload Data to Neurodiagnoses** === 82 82 83 -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. 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]] 84 84 85 - ===**PotentialDataSources**===55 +**For large datasets, please contact project administrators before uploading.** 86 86 87 - Neurodiagnosesmaintainsan updated list of potential biomedicaldatabasesrelevant toneurodegenerative diseases.57 +=== **Integrate Data into AI Models** === 88 88 89 -* Reference: [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]] 59 +Use **Jupyter Notebooks** on EBRAINS for **data preprocessing.** 60 +Standardize data using **harmonization tools.** 61 +Train AI models with **newly integrated datasets.** 90 90 91 - ===**1.RegisterforAccess** ===63 +**Reference:** [[Data Processing Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]] 92 92 93 - Each external database requires individual registration and access approval. Follow the official guidelines of each database provider.65 +---- 94 94 95 -* Ensure that you have completed all ethical approvals and data access agreements before integrating datasets into Neurodiagnoses. 96 -* Some repositories require a Data Usage Agreement (DUA) before downloading sensitive medical data. 67 +== **AI-Powered Annotation & Machine Learning Models** == 97 97 98 - ===**2.Download&PrepareData**===69 +Neurodiagnoses applies **advanced machine learning models** to classify CNS diseases, extract features from **biomarkers and neuroimaging**, and provide **AI-powered annotation.** 99 99 100 - Onceaccessis granted, downloaddatasets whilecomplying with data usagepolicies. Ensure that the files meet Neurodiagnoses’ format requirementsfor smooth integration.71 +=== **AI Model Categories** === 101 101 102 -==== **Supported File Formats** ==== 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 103 103 104 -* Tabular Data: .csv, .tsv 105 -* Neuroimaging Data: .nii, .dcm 106 -* Genomic Data: .fasta, .vcf 107 -* Clinical Metadata: .json, .xml 80 +**Reference:** [[AI Model Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/models.md]] 108 108 109 - ==== **Mandatory Fields for Integration** ====82 +---- 110 110 111 -|=Field Name|=Description 112 -|Subject ID|Unique patient identifier 113 -|Diagnosis|Standardized disease classification 114 -|Biomarkers|CSF, plasma, or imaging biomarkers 115 -|Genetic Data|Whole-genome or exome sequencing 116 -|Neuroimaging Metadata|MRI/PET acquisition parameters 84 +== **Clinical Decision Support & Tridimensional Diagnostic Framework** == 117 117 118 - === **3. Upload Data toNeurodiagnoses**===86 +Neurodiagnoses generates **structured AI reports** for clinicians, combining: 119 119 120 -Once preprocessed, data can be uploaded to EBRAINS or GitHub. 88 +**Probabilistic Diagnosis:** AI-generated ranking of potential diagnoses. 89 +**Tridimensional Classification:** Standardized diagnostic reports based on: 121 121 122 -* ((( 123 -**Option 1: Upload to EBRAINS Bucket** 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. 124 124 125 -* Location: [[EBRAINS Neurodiagnoses Bucket>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Bucket]] 126 -* Ensure correct metadata tagging before submission. 127 -))) 128 -* ((( 129 -**Option 2: Contribute via GitHub Repository** 95 +**Reference:** [[Tridimensional Classification Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/classification.md]] 130 130 131 -* Location: [[GitHub Data Repository>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/tree/main/data]] 132 -* Create a new folder under /data/ and include dataset description. 133 -))) 97 +---- 134 134 135 - //Note:For large datasets, please contact theprojectadministrators beforeuploading.//99 +== **Data Security, Compliance & Federated Learning** == 136 136 137 -=== **4. Integrate Data into AI Models** === 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. 138 138 139 - Onceuploaded,datasetsmustbeharmonizedd formattedbefore AImodel training.105 +**Reference:** [[Data Protection & Federated Learning>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/security.md]] 140 140 141 -==== **Steps for Data Integration** ==== 142 - 143 -* Open Jupyter Notebooks on EBRAINS to run preprocessing scripts. 144 -* Standardize neuroimaging and biomarker formats using harmonization tools. 145 -* Use machine learning models to handle missing data and feature extraction. 146 -* Train AI models with newly integrated patient cohorts. 147 -* 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]]. 148 - 149 149 ---- 150 150 151 -== **Data baseSourcesTable** ==109 +== **Data Processing & Integration with Clinica.Run** == 152 152 153 - === **WheretoInsertThis**===111 +Neurodiagnoses now supports **Clinica.Run**, an **open-source neuroimaging platform** for **multimodal data processing.** 154 154 155 -* GitHub: [[docs/data_sources.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_sources.md]] 156 -* EBRAINS Wiki: Collabs/neurodiagnoses/Data Sources 113 +=== **How It Works** === 157 157 158 -=== **Key Databases for Neurodiagnoses** === 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.** 159 159 160 -|=Database|=Focus Area|=Data Type|=Access Link 161 -|ADNI|Alzheimer's Disease|MRI, PET, CSF, cognitive tests|ADNI 162 -|PPMI|Parkinson’s Disease|Imaging, biospecimens|[[PPMI>>url:https://www.ppmi-info.org/]] 163 -|GP2|Genetic Data for PD|Whole-genome sequencing|[[GP2>>url:https://gp2.org/]] 164 -|Enroll-HD|Huntington’s Disease|Clinical, genetic, imaging|[[Enroll-HD>>url:https://enroll-hd.org/]] 165 -|GAAIN|Alzheimer's & Cognitive Decline|Multi-source data aggregation|[[GAAIN>>url:https://www.gaain.org/]] 166 -|UK Biobank|Population-wide studies|Genetic, imaging, health records|[[UK Biobank>>url:https://www.ukbiobank.ac.uk/]] 167 -|DPUK|Dementia & Aging|Imaging, genetics, lifestyle factors|[[DPUK>>url:https://www.dementiasplatform.uk/]] 168 -|PRION Registry|Prion Diseases|Clinical and genetic data|[[PRION Registry>>url:https://www.prionalliance.org/]] 169 -|DECIPHER|Rare Genetic Disorders|Genomic variants|DECIPHER 119 +=== **Implementation Steps** === 170 170 171 -If you know a relevant dataset, submit a proposal in [[GitHub Issues>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/issues]]. 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. 172 172 125 +**Reference:** [[Clinica.Run Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/clinica_run.md]] 126 + 173 173 ---- 174 174 175 -== **Collaboration & Partnerships** ==129 +== **Collaborative Development & Research** == 176 176 177 - ===**Where to InsertThis**===131 +**We Use GitHub to Develop AI Models & Store Research Data** 178 178 179 -* GitHub: [[docs/collaboration.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/collaboration.md]] 180 -* EBRAINS Wiki: Collabs/neurodiagnoses/Collaborations 133 +* **GitHub Repository:** AI model training scripts. 134 +* **GitHub Issues:** Tracks ongoing research questions. 135 +* **GitHub Wiki:** Project documentation & user guides. 181 181 182 - ===**PartneringwithDataProviders**===137 +**We Use EBRAINS for Data & Collaboration** 183 183 184 -Beyond using existing datasets, Neurodiagnoses seeks partnerships with data repositories to: 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. 185 185 186 -* Enable direct API-based data integration for real-time processing. 187 -* Co-develop harmonized AI-ready datasets with standardized annotations. 188 -* Secure funding opportunities through joint grant applications. 143 +**Join the Project Forum:** [[GitHub Discussions>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/discussions]] 189 189 190 - === **Interested in Partnering?** ===145 +---- 191 191 192 - If yourepresenta research consortiumor databaseprovider, reach out toexplore data-sharing agreements.147 +**For Additional Documentation:** 193 193 194 -* Contact: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]] 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/]] 195 195 196 196 ---- 197 197 198 -== **Final Notes** == 199 - 200 -Neurodiagnoses continuously expands its data ecosystem to support AI-driven clinical decision-making. Researchers and institutions are encouraged to contribute new datasets and methodologies. 201 - 202 -For additional technical documentation: 203 - 204 -* [[GitHub Repository>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses]] 205 -* [[EBRAINS Collaboration Page>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/]] 206 - 207 -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. 154 +**Neurodiagnoses is Open for Contributions – Join Us Today!**