[PDF][PDF] Fast and accurate Bayesian polygenic risk modeling with variational inference

S Zabad, S Gravel, Y Li - The American Journal of Human Genetics, 2023 - cell.com
The advent of large-scale genome-wide association studies (GWASs) has motivated the
development of statistical methods for phenotype prediction with single-nucleotide …

[PDF][PDF] A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin

CN Spracklen - Human Genetics and Genomics …, 2023 - scholarworks.umass.edu
Previous genome-wide association studies (GWASs) for adiponectin, a complex trait linked
to type 2 diabetes and obesity, identified> 20 associated loci. However, most loci were …

Fine-mapping identifies 27 allele-specific MPRA regulatory variants in Parkinson's disease related loci

S Farrow, S Gokuladhas, W Schierding, M Pudjihartono… - 2023 - researchsquare.com
Genome wide association studies (GWAS) have identified a number of genomic loci that are
associated with Parkinson's disease (PD) risk. However, the majority of these variants lie in …

[PDF][PDF] Linking genetic risk factors of complex disorders and health burden in populations

T Kiiskinen - 2023 - helda.helsinki.fi
Genome-wide association studies (GWAS) have expanded our understanding of complex
disorders and their population health implications to encompass the influence of genetic risk …

Imputation and Fine-Mapping in Genetic Association Studies

K Yu - 2023 - deepblue.lib.umich.edu
1.1 Background Genome-Wide Association Studies (GWAS) are an essential tool in modern
genetics research where they significantly advanced our understanding of the genetic …

Fine-mapping complex traits in large-scale biobanks across diverse populations

M Kanai - 2022 - search.proquest.com
Identifying causal variants for complex traits is a major goal of human genetics research.
Despite the great success of genome-wide association studies (GWAS) in locus discovery …

[PDF][PDF] The Functional Characterisation of Risk Loci Associated to Musculoskeletal Diseases

A Frantzeskos - 2023 - research.manchester.ac.uk
Genetic diseases can be classified along a spectrum based on the number of genes and
genetic variants involved in their development. On one end of the spectrum are Mendelian …

Single-cell genomics improves the discovery of risk variants and genes of atrial fibrillation

A Selewa, K Luo, M Wasney, L Smith, X Sun… - Nature …, 2023 - nature.com
Genome-wide association studies (GWAS) have linked hundreds of loci to cardiac diseases.
However, in most loci the causal variants and their target genes remain unknown. We …

[PDF][PDF] Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology

P Turley12, EG Atkinson, AR Martin - scholar.archive.org
Polygenic risk scores built from multi-ancestry genome-wide association studies (GWAS,
PRSmulti) have the potential to improve PRS accuracy and generalizability across …

[PDF][PDF] CARMA: Novel Bayesian model for fine-mapping in meta-analysis studies

Z Yang, C Wang, L Liu, A Khan, A Lee, B Vardarajan… - columbia.edu
We propose a novel Bayesian model for fine-mapping in order to identify putative causal
variants at GWAS loci. Relative to existing fine-mapping methods, the proposed model has …