Pitfalls of predicting complex traits from SNPs
The success of genome-wide association studies (GWASs) has led to increasing interest in
making predictions of complex trait phenotypes, including disease, from genotype data …
making predictions of complex trait phenotypes, including disease, from genotype data …
Emerging applications of machine learning in genomic medicine and healthcare
The integration of artificial intelligence technologies has propelled the progress of clinical
and genomic medicine in recent years. The significant increase in computing power has …
and genomic medicine in recent years. The significant increase in computing power has …
[PDF][PDF] Modeling linkage disequilibrium increases accuracy of polygenic risk scores
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …
become more accurate as training sample sizes increase. The standard approach for …
Efficient analysis of large-scale genome-wide data with two R packages: bigstatsr and bigsnpr
Motivation Genome-wide datasets produced for association studies have dramatically
increased in size over the past few years, with modern datasets commonly including millions …
increased in size over the past few years, with modern datasets commonly including millions …
[HTML][HTML] Regularized machine learning in the genetic prediction of complex traits
Compared to univariate analysis of genome-wide association (GWA) studies, machine
learning–based models have been shown to provide improved means of learning such …
learning–based models have been shown to provide improved means of learning such …
[HTML][HTML] Genomic risk prediction of complex human disease and its clinical application
Recent advances in genome-wide association studies have stimulated interest in the
genomic prediction of disease risk, potentially enabling individual-level risk estimates for …
genomic prediction of disease risk, potentially enabling individual-level risk estimates for …
Post-infectious group A streptococcal autoimmune syndromes and the heart
WJ Martin, AC Steer, PR Smeesters, J Keeble… - Autoimmunity …, 2015 - Elsevier
There is a pressing need to reduce the high global disease burden of rheumatic heart
disease (RHD) and its harbinger, acute rheumatic fever (ARF). ARF is a classical example of …
disease (RHD) and its harbinger, acute rheumatic fever (ARF). ARF is a classical example of …
Performance and robustness of penalized and unpenalized methods for genetic prediction of complex human disease
A central goal of medical genetics is to accurately predict complex disease from genotypes.
Here, we present a comprehensive analysis of simulated and real data using lasso and …
Here, we present a comprehensive analysis of simulated and real data using lasso and …
[HTML][HTML] Methylation risk scores are associated with a collection of phenotypes within electronic health record systems
Inference of clinical phenotypes is a fundamental task in precision medicine, and has
therefore been heavily investigated in recent years in the context of electronic health records …
therefore been heavily investigated in recent years in the context of electronic health records …
[HTML][HTML] Accurate and robust genomic prediction of celiac disease using statistical learning
Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet
performance varies widely depending on the disease and genomic risk score (GRS) …
performance varies widely depending on the disease and genomic risk score (GRS) …