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 book was written with the goal of introducing researchers and students in a variety of research fields to the intersection of data science and neuroimaging. This book reflects our own experience of doing research at the intersection of data science and neuroimaging and it is based on our experience working with students and collaborators who come from a variety of backgrounds and have a variety of reasons for wanting to use data science approaches in their work. The tools and ideas that we chose to write about are all tools and ideas that we have used in some way in our own research. Many of them are tools that we use on a daily basis in our work. This was important to us for a few reasons: the first is that we want to teach people things that we ourselves find useful. Second, it allowed us to write the book with a focus on solving specific analysis tasks. For example, in many of the chapters you will see that we walk you through ideas while implementing them in code, and with data. We believe that this is a good way to learn about data analysis, because it provides a connecting thread from scientific questions through the data and its representation to implementing specific answers to these questions. Finally, we find these ideas compelling and fruitful. That’s why we were drawn to them in the first place. We hope that our enthusiasm about the ideas and tools described in this book will be infectious enough to convince the readers of their value.

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.