Deliverables

Project deliverables

Work Packages	Deliverable	Type	Due Date (in months)
1	D1.1: Situational Analysis and Documentation of the Current Landscape	Report	20
1	D1.2: Prototype Version of the Rare Disease Registry Ecosystem	Prototype	20
1	D1.3: Exploratory Data Analysis of Rare Disease Registries	Report	28
1	D1.4: Final Integrated Version of the Rare Disease Registry Ecosystem	Software	28
2	D2.1: Implementation of VUS Analysis Methods in Rare Diseases – Conference Presentation	Other	14
2	D2.2: Metabolomic Profiling of Rare Disease Patients – Conference Presentation	Other	24
3	D2.3: Identification of Candidate Causative Genes in Rare Disease Patients – Conference Presentation	Report	14
3	D3.1: Segregation Analysis of Variants of Uncertain Significance (VUS) in Cancer-Predisposed Families	Other	28
3	D3.2: Re-Evaluation of VUS and Polygenic Risk Scores (PRS) in Hereditary Cancer – Conference Presentation	Other	28
4	D4.1: Functional Characterization of VUS in Familial Breast Cancer – Conference Presentation	Other	14
4	D4.2: Functional Characterization of VUS in Rare Diseases – Conference Presentation	Other	28
5	D5.1: Risk Stratification Using Polygenic Risk Scores	Report	20
5	D5.2: Risk Stratification Using Multi-Omic Scores – Scientific Publication	Publication	28
6	D6.1: Development of Machine Learning Models for Patient Stratification and Risk Prediction	Report	18
6	D6.2: Optimization and Adaptation of Trained Machine Learning Models	Report	28
6	D6.3: Text Mining and Natural Language Processing for Biomedical Data	Report	20
7	D7.1: Statistical Analysis Methodologies for GWAS Data – Technical Report	Report	28
7	D7.2: Data Clustering Techniques for GWAS Interpretation – Technical Report	Report	28
8	D8.1: Integrated Methodological Framework and Unified Data Sets – Technical Report	Report	28
8	D8.2: Advanced Deep Learning Methodologies – Technical Report	Report	28
9	D9.1: Identification and Characterization of VUS – Technical Report and International Conference Presentation	Other	28
9	D9.2: Evaluation of Deep Learning Models Using WGS Data from 30 Greek Patients – Technical Report	Report	28
10	D10.1: VUS Characterization and Results – Scientific Journal Publication	Other	28
10	D10.2: Functional Impact Assessment of Identified VUS – Technical Report	Report	28
11	D11.1: Knowledge Extraction from Biomedical Data – Technical Report	Report	28
11	D11.2: Delivery of Database and User Interface – Software and Journal Publication	Other	28
12	D12.1: Design and Development of an Intelligent Electronic Health Record Supporting Multi-Omic, Genetic, and Clinical Data	Software	28
12	D12.2: Development of a Smart Engine for Dynamic Creation of New Patient Registries	Software	28