This lesson describes the fundamentals of genomics, from central dogma to design and implementation of GWAS, to the computation, analysis, and interpretation of polygenic risk scores. 

This lesson provides an overview of the database of Genotypes and Phenotypes (dbGaP), which was developed to archive and distribute the data and results from studies that have investigated the interaction of genotype and phenotype in humans.

This talks discusses data sharing in the context of dementia. It explains why data sharing in dementia is important, how data is usually shared in the field and illustrates two examples: the Netherlands Consortium Dementia cohorts and the European Platform for Neurodegenerative Diseases.

The Medical Informatics Platform (MIP) Dementia had been installed in several memory clinics across Europe allowing them to federate their real-world databases. Research open access databases had also been integrated such as ADNI (Alzheimer’s Dementia Neuroimaging Initiative), reaching a cumulative case load of more than 5,000 patients (major cognitive disorder due to Alzheimer’s disease, other major cognitive disorder, minor cognitive disorder, controls). The statistic and machine learning tools implemented in the MIP allowed researchers to conduct easily federated analyses among Italian memory clinics (Redolfi et al. 2020) and also across borders between the French (Lille), the Swiss (Lausanne) and the Italian (Brescia) datasets.

The number of patients with dementia is estimated to increase given the aging population. This will lead to a number of challenges in the future in terms of diagnosis and care for patients with dementia. To meet these needs such as early diagnsosis and development of prognostic biomarkers, large datasets, such as the federated datasets on dementia. The EAN Dementia and cognitive disorders scientific panel can play an important role as coordinator and connecting panel members who wish to participate in e.g. consortia.

This lesson continues from part one of the lecture Ontologies, Databases, and Standards, diving deeper into a description of ontologies and knowledg graphs. 

This short video shows how a brainlife.io publication can be opened from the Data Deposition page of the journal Nature Scientific Data.

This short video shows how data in a brainlife.io publication can be opened from a DOI inside a published article. The video provides an example of how the DOI deposited on the journal can be opened with a web browser to redirect to the associated data publication on brainlife.io.