Patrick Smadbeck
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View article: GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis
GWASHub: An Automated Cloud-Based Platform for Genome-Wide Association Study Meta-Analysis Open
Genome-wide association studies (GWAS) often aggregate data from millions of participants across multiple cohorts using meta-analysis to maximise power for genetic discovery. The increase in availability of genomic biobanks, together with …
View article: The Neurodegenerative Disease Knowledge Portal
The Neurodegenerative Disease Knowledge Portal Open
[This corrects the article DOI: 10.1212/NXG.0000000000200246.].
View article: Selecting variant masks to improve power and replicability of gene-level burden tests
Selecting variant masks to improve power and replicability of gene-level burden tests Open
Rare coding variant association studies typically perform gene-level association tests in which variants are filtered (or “masked”) and aggregated based on functional annotation and allele frequency. As there is little research and no cons…
View article: The Neurodegenerative Disease Knowledge Portal
The Neurodegenerative Disease Knowledge Portal Open
Although large-scale genetic association studies have proven useful for the delineation of neurodegenerative disease processes, we still lack a full understanding of the pathologic mechanisms of these diseases, resulting in few appropriate…
View article: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources
The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources Open
Although large-scale genetic association studies have proven useful for the delineation of neurodegenerative disease processes, we still lack a full understanding of the pathological mechanisms of these diseases, resulting in few appropria…
View article: Assessing the genetic contribution of cumulative behavioral factors associated with longitudinal type 2 diabetes risk highlights adiposity and the brain-metabolic axis
Assessing the genetic contribution of cumulative behavioral factors associated with longitudinal type 2 diabetes risk highlights adiposity and the brain-metabolic axis Open
While genetic factors, behavior, and environmental exposures form a complex web of interrelated associations in type 2 diabetes (T2D), their interaction is poorly understood. Here, using data from ∼500K participants of the UK Biobank, we i…
View article: Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research Open
View article: The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Open
View article: Coalescent models for developmental biology and the spatio-temporal dynamics of growing tissues
Coalescent models for developmental biology and the spatio-temporal dynamics of growing tissues Open
Development is a process that needs to tightly coordinated in both space and time. Cell tracking and lineage tracing have become important experimental techniques in developmental biology and allow us to map the fate of cells and their pro…
View article: On a theory of stability for nonlinear stochastic chemical reaction networks
On a theory of stability for nonlinear stochastic chemical reaction networks Open
We present elements of a stability theory for small, stochastic, nonlinear chemical reaction networks. Steady state probability distributions are computed with zero-information (ZI) closure, a closure algorithm that solves chemical master …