AIMC Topic: Biological Specimen Banks

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Artificial intelligence powered statistical genetics in biobanks.

Journal of human genetics
Large-scale, sometimes nationwide, prospective genomic cohorts biobanking rich biological specimens such as blood, urine and tissues, have been established and released their vast amount of data in several countries. These genetic and epidemiological...

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

Nature communications
The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on compl...

Optimising network modelling methods for fMRI.

NeuroImage
A major goal of neuroimaging studies is to develop predictive models to analyze the relationship between whole brain functional connectivity patterns and behavioural traits. However, there is no single widely-accepted standard pipeline for analyzing ...

Purification of viable peripheral blood mononuclear cells for biobanking using a robotized liquid handling workstation.

Journal of translational medicine
BACKGROUND: The purification of peripheral blood mononuclear cells (PBMCs) by means of density gradient (1.07 g/mL) centrifugation is one of the most commonly used methods in diagnostics and research laboratories as well as in biobanks. Here, we eval...

Deep neural networks and kernel regression achieve comparable accuracies for functional connectivity prediction of behavior and demographics.

NeuroImage
There is significant interest in the development and application of deep neural networks (DNNs) to neuroimaging data. A growing literature suggests that DNNs outperform their classical counterparts in a variety of neuroimaging applications, yet there...

Quantitative CMR population imaging on 20,000 subjects of the UK Biobank imaging study: LV/RV quantification pipeline and its evaluation.

Medical image analysis
Population imaging studies generate data for developing and implementing personalised health strategies to prevent, or more effectively treat disease. Large prospective epidemiological studies acquire imaging for pre-symptomatic populations. These st...

Cardiovascular disease risk prediction using automated machine learning: A prospective study of 423,604 UK Biobank participants.

PloS one
BACKGROUND: Identifying people at risk of cardiovascular diseases (CVD) is a cornerstone of preventative cardiology. Risk prediction models currently recommended by clinical guidelines are typically based on a limited number of predictors with sub-op...

Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide.

Molecular psychiatry
Suicide accounts for nearly 800,000 deaths per year worldwide with rates of both deaths and attempts rising. Family studies have estimated substantial heritability of suicidal behavior; however, collecting the sample sizes necessary for successful ge...

Mind the Gap: From Tool to Knowledge Base.

Biopreservation and biobanking
With the ethical, legal, and societal issues (ELSI) Knowledge Base, we introduce a key element of the Biobanking and Biomolecular Resources Research Infrastructure-European Research Infrastructure Consortium (BBMRI-ERIC) Common Service ELSI, which pr...