Wiki source code of Methodology
Version 18.1 by manuelmenendez on 2025/02/13 12:52
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| author | version | line-number | content |
|---|---|---|---|
| 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. The methodology integrates multi-modal data, including genetic, neuroimaging, neurophysiological, and biomarker datasets, and applies machine learning models to generate structured, explainable diagnostic outputs. | ||
| 4 | |||
| 5 | ---- | ||
| 6 | |||
| 7 | == **How to Use External Databases in Neurodiagnoses** == | ||
| 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. | ||
| 10 | |||
| 11 | === **Potential Data Sources** === | ||
| 12 | |||
| 13 | Neurodiagnoses maintains an updated list of potential biomedical databases relevant to neurodegenerative diseases. | ||
| 14 | |||
| 15 | * Reference: [[List of Potential Databases>>url:https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/blob/main/data/sources/list_of_potential_databases]] | ||
| 16 | |||
| 17 | === **1. Register for Access** === | ||
| 18 | |||
| 19 | Each external database requires individual registration and access approval. Follow the official guidelines of each database provider. | ||
| 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. | ||
| 23 | |||
| 24 | === **2. Download & Prepare Data** === | ||
| 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. | ||
| 27 | |||
| 28 | ==== **Supported File Formats** ==== | ||
| 29 | |||
| 30 | * Tabular Data: .csv, .tsv | ||
| 31 | * Neuroimaging Data: .nii, .dcm | ||
| 32 | * Genomic Data: .fasta, .vcf | ||
| 33 | * Clinical Metadata: .json, .xml | ||
| 34 | |||
| 35 | ==== **Mandatory Fields for Integration** ==== | ||
| 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 | ||
| 43 | |||
| 44 | === **3. Upload Data to Neurodiagnoses** === | ||
| 45 | |||
| 46 | Once preprocessed, data can be uploaded to EBRAINS or GitHub. | ||
| 47 | |||
| 48 | * ((( | ||
| 49 | **Option 1: Upload to EBRAINS Bucket** | ||
| 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** | ||
| 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 | ))) | ||
| 60 | |||
| 61 | //Note: For large datasets, please contact the project administrators before uploading.// | ||
| 62 | |||
| 63 | === **4. Integrate Data into AI Models** === | ||
| 64 | |||
| 65 | Once uploaded, datasets must be harmonized and formatted before AI model training. | ||
| 66 | |||
| 67 | ==== **Steps for Data Integration** ==== | ||
| 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]]. | ||
| 74 | |||
| 75 | ---- | ||
| 76 | |||
| 77 | == **Database Sources Table** == | ||
| 78 | |||
| 79 | === **Where to Insert This** === | ||
| 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 | ||
| 83 | |||
| 84 | === **Key Databases for Neurodiagnoses** === | ||
| 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 | ||
| 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 | ---- | ||
| 100 | |||
| 101 | == **Collaboration & Partnerships** == | ||
| 102 | |||
| 103 | === **Where to Insert This** === | ||
| 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 | ||
| 107 | |||
| 108 | === **Partnering with Data Providers** === | ||
| 109 | |||
| 110 | Beyond using existing datasets, Neurodiagnoses seeks partnerships with data repositories to: | ||
| 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. | ||
| 115 | |||
| 116 | === **Interested in Partnering?** === | ||
| 117 | |||
| 118 | If you represent a research consortium or database provider, reach out to explore data-sharing agreements. | ||
| 119 | |||
| 120 | * Contact: [[info@neurodiagnoses.com>>mailto:info@neurodiagnoses.com]] | ||
| 121 | |||
| 122 | ---- | ||
| 123 | |||
| 124 | == **Final Notes** == | ||
| 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. | ||
| 127 | |||
| 128 | For additional technical documentation: | ||
| 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/]] | ||
| 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. |