From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

Glaucomatous optic neuropathy: Mitochondrial dynamics, dysfunction and protection in retinal ganglion cells

WK Ju, GA Perkins, KY Kim, T Bastola, WY Choi… - Progress in retinal and …, 2023 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide and is characterized by a
slow, progressive, and multifactorial degeneration of retinal ganglion cells (RGCs) and their …

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 …

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …

[HTML][HTML] Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells

F Tian, Y Cheng, S Zhou, Q Wang, A Monavarfeshani… - Neuron, 2022 - cell.com
Regulatory programs governing neuronal death and axon regeneration in
neurodegenerative diseases remain poorly understood. In adult mice, optic nerve crush …

[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 …

Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types

T van Zyl, W Yan, AM McAdams… - Proceedings of the …, 2022 - pnas.org
The anterior segment of the eye consists of the cornea, iris, ciliary body, crystalline lens, and
aqueous humor outflow pathways. Together, these tissues are essential for the proper …

Global Biobank analyses provide lessons for develo** 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 …

Meta-analysis fine-map** 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-map** of meta-analysis studies is typically performed as in a single-cohort …

Insights from complex trait fine-map** across diverse populations

M Kanai, JC Ulirsch, J Karjalainen, M Kurki… - medrxiv, 2021 - medrxiv.org
Despite the great success of genome-wide association studies (GWAS) in identifying genetic
loci significantly associated with diseases, the vast majority of causal variants underlying …