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From target discovery to clinical drug development with human genetics
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 …
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
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 …
slow, progressive, and multifactorial degeneration of retinal ganglion cells (RGCs) and their …
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
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
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 …
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
Regulatory programs governing neuronal death and axon regeneration in
neurodegenerative diseases remain poorly understood. In adult mice, optic nerve crush …
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
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness
worldwide, disproportionately affects individuals of African ancestry. We conducted a …
worldwide, disproportionately affects individuals of African ancestry. We conducted a …
Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types
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 …
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
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …
few studies have thoroughly investigated their best practices in global populations across …
Meta-analysis fine-map** is often miscalibrated at single-variant resolution
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 …
(GWASs). Fine-map** of meta-analysis studies is typically performed as in a single-cohort …
Insights from complex trait fine-map** across diverse populations
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 …
loci significantly associated with diseases, the vast majority of causal variants underlying …