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... ... @@ -1,207 +1,106 @@ 1 -** #Neurodiagnoses AI:Multimodal AIfor NeurodiagnosticPredictions**1 +**Neurodiagnoses AI** is an open-source, AI-driven framework designed to enhance the diagnosis and prognosis of central nervous system (CNS) disorders. Building upon the Florey Dementia Index (FDI) methodology, it now encompasses a broader spectrum of neurological conditions. The system integrates multimodal data sources—including EEG, neuroimaging, biomarkers, and genetics—and employs machine learning models to deliver explainable, real-time diagnostic insights. A key feature of this framework is the incorporation of the **Generalized Neuro Biomarker Ontology Categorization (Neuromarker)**, which standardizes biomarker classification across all neurodegenerative diseases, facilitating cross-disease AI training. 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 +**Neuromarker: Generalized Biomarker Ontology** 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 +Neuromarker extends the Common Alzheimer’s Disease Research Ontology (CADRO) into a comprehensive biomarker categorization framework applicable to all neurodegenerative diseases (NDDs). This ontology enables standardized classification, AI-based feature extraction, and seamless multimodal data integration. 8 8 9 -### **Potential Data Sources** 10 -Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. ## 7 +**Core Biomarker Categories** 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)) 9 +Within the Neurodiagnoses AI framework, biomarkers are categorized as follows: 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.## 11 +|=**Category**|=**Description** 12 +|**Molecular Biomarkers**|Omics-based markers (genomic, transcriptomic, proteomic, metabolomic, lipidomic) 13 +|**Neuroimaging Biomarkers**|Structural (MRI, CT), Functional (fMRI, PET), Molecular Imaging (tau, amyloid, α-synuclein) 14 +|**Fluid Biomarkers**|CSF, plasma, blood-based markers for tau, amyloid, α-synuclein, TDP-43, GFAP, NfL 15 +|**Neurophysiological Biomarkers**|EEG, MEG, evoked potentials (ERP), sleep-related markers 16 +|**Digital Biomarkers**|Gait analysis, cognitive/speech biomarkers, wearables data, EHR-based markers 17 +|**Clinical Phenotypic Markers**|Standardized clinical scores (MMSE, MoCA, CDR, UPDRS, ALSFRS, UHDRS) 18 +|**Genetic Biomarkers**|Risk alleles (APOE, LRRK2, MAPT, C9orf72, PRNP) and polygenic risk scores 19 +|**Environmental & Lifestyle Factors**|Toxins, infections, diet, microbiome, comorbidities 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`## 21 +**Integrating External Databases into 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 23 +To enhance diagnostic precision, Neurodiagnoses AI incorporates data from multiple biomedical and neurological research databases. Researchers can integrate external datasets by following these steps: 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.## 25 +1. ((( 26 +**Register for Access** 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. 28 +* Each external database requires individual registration and access approval. 29 +* Ensure compliance with ethical approvals and data usage agreements before integrating datasets into Neurodiagnoses. 30 +* Some repositories may require a Data Usage Agreement (DUA) for sensitive medical data. 31 +))) 32 +1. ((( 33 +**Download & Prepare Data** 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**.## 35 +* Download datasets while adhering to database usage policies. 36 +* ((( 37 +Ensure files meet Neurodiagnoses format requirements: 58 58 59 -**Reference**: See `docs/data_processing.md` for detailed instructions. 39 +|=**Data Type**|=**Accepted Formats** 40 +|**Tabular Data**|.csv, .tsv 41 +|**Neuroimaging**|.nii, .dcm 42 +|**Genomic Data**|.fasta, .vcf 43 +|**Clinical Metadata**|.json, .xml 44 +))) 45 +* ((( 46 +**Mandatory Fields for Integration**: 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. 48 +* Subject ID: Unique patient identifier 49 +* Diagnosis: Standardized disease classification 50 +* Biomarkers: CSF, plasma, or imaging biomarkers 51 +* Genetic Data: Whole-genome or exome sequencing 52 +* Neuroimaging Metadata: MRI/PET acquisition parameters 53 +))) 54 +))) 55 +1. ((( 56 +**Upload Data to Neurodiagnoses** 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 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**.## 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) 78 - 79 -If you experience issues integrating data, **open a GitHub Issue** or consult the **EBRAINS Neurodiagnoses Forum**. 80 - 81 -== **How to Use External Databases in Neurodiagnoses** == 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. 84 - 85 -=== **Potential Data Sources** === 86 - 87 -Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. 88 - 89 -* Reference: [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]] 90 - 91 -=== **1. Register for Access** === 92 - 93 -Each external database requires individual registration and access approval. Follow the official guidelines of each database provider. 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. 97 - 98 -=== **2. Download & Prepare Data** === 99 - 100 -Once access is granted, download datasets while complying with data usage policies. Ensure that the files meet Neurodiagnoses’ format requirements for smooth integration. 101 - 102 -==== **Supported File Formats** ==== 103 - 104 -* Tabular Data: .csv, .tsv 105 -* Neuroimaging Data: .nii, .dcm 106 -* Genomic Data: .fasta, .vcf 107 -* Clinical Metadata: .json, .xml 108 - 109 -==== **Mandatory Fields for Integration** ==== 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 117 - 118 -=== **3. Upload Data to Neurodiagnoses** === 119 - 120 -Once preprocessed, data can be uploaded to EBRAINS or GitHub. 121 - 122 122 * ((( 123 123 **Option 1: Upload to EBRAINS Bucket** 124 124 125 -* Location: [[EBRAINS Neurodiagnoses Bucket>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Bucket]]61 +* Location: EBRAINS Neurodiagnoses Bucket 126 126 * Ensure correct metadata tagging before submission. 127 127 ))) 128 128 * ((( 129 129 **Option 2: Contribute via GitHub Repository** 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. 67 +* Location: GitHub Data Repository 68 +* Create a new folder under /data/ and include a dataset description. 69 +* For large datasets, contact project administrators before uploading. 133 133 ))) 71 +))) 72 +1. ((( 73 +**Integrate Data into AI Models** 134 134 135 -//Note: For large datasets, please contact the project administrators before uploading.// 136 - 137 -=== **4. Integrate Data into AI Models** === 138 - 139 -Once uploaded, datasets must be harmonized and formatted before AI model training. 140 - 141 -==== **Steps for Data Integration** ==== 142 - 143 143 * Open Jupyter Notebooks on EBRAINS to run preprocessing scripts. 144 144 * Standardize neuroimaging and biomarker formats using harmonization tools. 145 -* U se machine learning models to handle missing data and feature extraction.77 +* Utilize machine learning models to handle missing data and feature extraction. 146 146 * 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]]. 148 148 149 ----- 80 +**Reference**: See docs/data_processing.md for detailed instructions. 81 +))) 150 150 151 - ==**DatabaseSourcesTable**==83 +**AI-Driven Biomarker Categorization** 152 152 153 - === **WheretoInsertThis**===85 +Neurodiagnoses employs advanced AI models for biomarker classification: 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 87 +|=**Model Type**|=**Application** 88 +|**Graph Neural Networks (GNNs)**|Identify shared biomarker pathways across diseases 89 +|**Contrastive Learning**|Distinguish overlapping vs. unique biomarkers 90 +|**Multimodal Transformer Models**|Integrate imaging, omics, and clinical data 157 157 158 - ===**Key Databases forNeurodiagnoses**===92 +**Collaboration & Partnerships** 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 94 +Neurodiagnoses actively seeks partnerships with data providers to: 170 170 171 -If you know a relevant dataset, submit a proposal in [[GitHub Issues>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/issues]]. 172 - 173 ----- 174 - 175 -== **Collaboration & Partnerships** == 176 - 177 -=== **Where to Insert This** === 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 181 - 182 -=== **Partnering with Data Providers** === 183 - 184 -Beyond using existing datasets, Neurodiagnoses seeks partnerships with data repositories to: 185 - 186 -* Enable direct API-based data integration for real-time processing. 96 +* Enable API-based data integration for real-time processing. 187 187 * Co-develop harmonized AI-ready datasets with standardized annotations. 188 188 * Secure funding opportunities through joint grant applications. 189 189 190 - ===**Interested in Partnering?**===100 +**Interested in Partnering?** 191 191 192 192 If you represent a research consortium or database provider, reach out to explore data-sharing agreements. 193 193 194 -* 104 +**Contact**: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]] 195 195 196 ----- 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. 106 +
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