[HTML][HTML] 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 …

[HTML][HTML] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

[HTML][HTML] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …

[HTML][HTML] A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma

SS Verma, HV Gudiseva, VRM Chavali, RJ Salowe… - Cell, 2024 - cell.com
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness
worldwide, disproportionately affects individuals of African ancestry. We conducted a …

[HTML][HTML] A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis

S Namba, T Konuma, KH Wu, W Zhou, Y Okada - Cell Genomics, 2022 - cell.com
Genomics-driven drug discovery is indispensable for accelerating the development of novel
therapeutic targets. However, the drug discovery framework based on evidence from …

[HTML][HTML] Genome-wide association study finds multiple loci associated with intraocular pressure in HS rats

S Fowler, T Wang, D Munro, A Kumar, AS Chitre… - Frontiers in …, 2023 - frontiersin.org
Elevated intraocular pressure (IOP) is influenced by environmental and genetic factors.
Increased IOP is a major risk factor for most types of glaucoma, including primary open …

[HTML][HTML] Genetic context modulates aging and degeneration in the murine retina

OJ Marola, M MacLean, TL Cossette, CA Diemler… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Background: Age is the principal risk factor for neurodegeneration in both the retina and
brain. The retina and brain share many biological properties; thus, insights into retinal aging …

[HTML][HTML] Molecular Genomics of Glaucoma: An Update

G Kumaramanickavel, S Jadhav… - … Recent Advances and …, 2022 - intechopen.com
Glaucoma is in the top five age-related eye disorders with increasing prevalence globally.
Past research has led to the understanding of glaucoma as a neurodegenerative disease …

[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

J Karjalainen, M Kurki, P Palta, A Ganna, JT Koskela… - 2022 - helda.helsinki.fi
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Finemapping of meta-analysis studies is typically performed as in a single-cohort …

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 …