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... ... @@ -1,154 +1,207 @@ 1 - ==**Overview**==1 +**# Neurodiagnoses AI: Multimodal AI for Neurodiagnostic Predictions** 2 2 3 -Neurodiagnoses develops a **tridimensional diagnostic framework** for **CNS diseases**, incorporating **AI-powered annotation tools** to improve **interpretability, standardization, and clinical utility.** 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**.## 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). 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.## 10 10 11 -By applying **machine learning models**, Neurodiagnoses generates **structured, explainable diagnostic outputs** to assist **clinical decision-making** and **biomarker-driven patient stratification.** 9 +### **Potential Data Sources** 10 +Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. ## 12 12 13 ----- 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)) 14 14 15 -== **Data Integration & External Databases** == 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.## 16 16 17 -=== **How to Use External Databases in Neurodiagnoses** === 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`## 18 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. 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 20 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]] 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.## 23 23 24 -=== **Register for Access** === 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. 25 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).** 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**.## 29 29 30 - ===**Download& PrepareData** ===59 +**Reference**: See `docs/data_processing.md` for detailed instructions. 31 31 32 -Once access is granted, download datasets **following compliance guidelines** and **format requirements** for integration. 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. 33 33 34 -**Supported File Formats** 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 35 35 36 -* **Tabular Data**: .csv, .tsv 37 -* **Neuroimaging Data**: .nii, .dcm 38 -* **Genomic Data**: .fasta, .vcf 39 -* **Clinical Metadata**: .json, .xml 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**.## 40 40 41 -**Mandatory Fields for Integration** 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) 42 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 79 +If you experience issues integrating data, **open a GitHub Issue** or consult the **EBRAINS Neurodiagnoses Forum**. 49 49 50 -== =**UploadDatatoNeurodiagnoses** ===81 +== **How to Use External Databases in Neurodiagnoses** == 51 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]] 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. 54 54 55 -** For large datasets, please contactprojectadministratorsbeforeuploading.**85 +=== **Potential Data Sources** === 56 56 57 - === **IntegrateDataAIModels**===87 +Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. 58 58 59 -Use **Jupyter Notebooks** on EBRAINS for **data preprocessing.** 60 -Standardize data using **harmonization tools.** 61 -Train AI models with **newly integrated datasets.** 89 +* Reference: [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]] 62 62 63 -**Re ference:** [[Data ProcessingGuide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/data_processing.md]]91 +=== **1. Register for Access** === 64 64 65 - ----93 +Each external database requires individual registration and access approval. Follow the official guidelines of each database provider. 66 66 67 -== **AI-Powered Annotation & Machine Learning Models** == 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. 68 68 69 - Neurodiagnosesapplies**advancedmachinelearning models** to classify CNSdiseases,extractfeatures from **biomarkersand neuroimaging**, and provide **AI-powered annotation.**98 +=== **2. Download & Prepare Data** === 70 70 71 - ===**AIModelCategories**===100 +Once access is granted, download datasets while complying with data usage policies. Ensure that the files meet Neurodiagnoses’ format requirements for smooth integration. 72 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 102 +==== **Supported File Formats** ==== 79 79 80 -**Reference:** [[AI Model Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/models.md]] 104 +* Tabular Data: .csv, .tsv 105 +* Neuroimaging Data: .nii, .dcm 106 +* Genomic Data: .fasta, .vcf 107 +* Clinical Metadata: .json, .xml 81 81 82 - ----109 +==== **Mandatory Fields for Integration** ==== 83 83 84 -== **Clinical Decision Support & Tridimensional Diagnostic Framework** == 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 85 85 86 -Neurodiagnoses generates**structuredAI reports** for clinicians, combining:118 +=== **3. Upload Data to Neurodiagnoses** === 87 87 88 -**Probabilistic Diagnosis:** AI-generated ranking of potential diagnoses. 89 -**Tridimensional Classification:** Standardized diagnostic reports based on: 120 +Once preprocessed, data can be uploaded to EBRAINS or GitHub. 90 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. 122 +* ((( 123 +**Option 1: Upload to EBRAINS Bucket** 94 94 95 -**Reference:** [[Tridimensional Classification Guide>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/classification.md]] 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** 96 96 97 ----- 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 +))) 98 98 99 - ==**DataSecurity,Compliance& FederatedLearning** ==135 +//Note: For large datasets, please contact the project administrators before uploading.// 100 100 101 -✔ **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. 137 +=== **4. Integrate Data into AI Models** === 104 104 105 - **Reference:**[[Data Protection& FederatedLearning>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/security.md]]139 +Once uploaded, datasets must be harmonized and formatted before AI model training. 106 106 107 - ----141 +==== **Steps for Data Integration** ==== 108 108 109 -== **Data Processing & Integration with Clinica.Run** == 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]]. 110 110 111 - Neurodiagnoses now supports **Clinica.Run**, an **open-source neuroimaging platform** for **multimodal data processing.**149 +---- 112 112 113 -== =**How ItWorks** ===151 +== **Database Sources Table** == 114 114 115 -✔ **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.** 153 +=== **Where to Insert This** === 118 118 119 -=== **Implementation Steps** === 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 120 120 121 -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. 158 +=== **Key Databases for Neurodiagnoses** === 124 124 125 -**Reference:** [[Clinica.Run Documentation>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/clinica_run.md]] 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 126 126 171 +If you know a relevant dataset, submit a proposal in [[GitHub Issues>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/issues]]. 172 + 127 127 ---- 128 128 129 -== **Collaborati ve Development&Research** ==175 +== **Collaboration & Partnerships** == 130 130 131 -**We UseGitHub toDevelop AIModels& StoreResearch Data**177 +=== **Where to Insert This** === 132 132 133 -* **GitHub Repository:** AI model training scripts. 134 -* **GitHub Issues:** Tracks ongoing research questions. 135 -* **GitHub Wiki:** Project documentation & user guides. 179 +* GitHub: [[docs/collaboration.md>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/docs/collaboration.md]] 180 +* EBRAINS Wiki: Collabs/neurodiagnoses/Collaborations 136 136 137 -** WeUse EBRAINS for Data& Collaboration**182 +=== **Partnering with Data Providers** === 138 138 139 -* **EBRAINS Buckets:** Large-scale neuroimaging and biomarker storage. 140 -* **EBRAINS Jupyter Notebooks:** Cloud-based AI model execution. 141 -* **EBRAINS Wiki:** Research documentation and updates. 184 +Beyond using existing datasets, Neurodiagnoses seeks partnerships with data repositories to: 142 142 143 -**Join the Project Forum:** [[GitHub Discussions>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/discussions]] 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. 144 144 145 - ----190 +=== **Interested in Partnering?** === 146 146 147 - **ForAdditionalDocumentation:**192 +If you represent a research consortium or database provider, reach out to explore data-sharing agreements. 148 148 149 -* **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/]] 194 +* Contact: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]] 151 151 152 152 ---- 153 153 154 -**Neurodiagnoses is Open for Contributions – Join Us Today!** 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.