[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Fine-mapping from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS Genetics, 2022 - journals.plos.org
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 …

Secure and federated genome-wide association studies for Biobank-scale datasets

H Cho, D Froelicher, J Chen, M Edupalli, A Pyrgelis… - bioRxiv, 2022 - biorxiv.org
Sharing data across multiple institutions for genome-wide association studies (GWAS)
would enable discovery of novel genetic variants linked to health and disease. However …

A genome-wide association analysis of 2,622,830 individuals reveals new pathogenic pathways in gout

TJ Major, R Takei, H Matsuo, MP Leask, RK Topless… - medRxiv, 2022 - medrxiv.org
Gout is a chronic disease of monosodium urate crystal deposition in the setting of
hyperuricemia that typically presents with recurrent flares of acute inflammatory arthritis that …

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] 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 …