Wiki source code of Methodology
Version 18.1 by manuelmenendez on 2025/02/13 12:52
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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. |