Improving reporting standards for polygenic scores in risk prediction studies
H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
studies, can bridge the gap between initial discovery efforts and clinical applications for the …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
Towards clinical utility of polygenic risk scores
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …
management. Risk prediction typically includes risk factors such as age, sex, family history of …
[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-mapping genetic variants from …
that it provides a simple and efficient approach to fine-mapping genetic variants from …
From genome-wide associations to candidate causal variants by statistical fine-mapping
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Discovery and implications of polygenicity of common diseases
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …
common diseases: the number of genomic variants that contribute to risk of disease and …
[HTML][HTML] Polygenic prediction via Bayesian regression and continuous shrinkage priors
Polygenic risk scores (PRS) have shown promise in predicting human complex traits and
diseases. Here, we present PRS-CS, a polygenic prediction method that infers posterior …
diseases. Here, we present PRS-CS, a polygenic prediction method that infers posterior …
The MR-Base platform supports systematic causal inference across the human phenome
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …
relationships between phenotypes, using a strategy known as 2-sample Mendelian …
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Key challenges for human genetics, precision medicine and evolutionary biology include
deciphering the regulatory code of gene expression and understanding the transcriptional …
deciphering the regulatory code of gene expression and understanding the transcriptional …