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

…, CR Gignoux, SE Graham, WE Hornsby, N Ingold… - 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 primarily …

[HTML][HTML] Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic …

…, W Midwinter, A Wilk, N Li, L Felkin, N Ingold… - Genome medicine, 2019 - Springer
Background International guidelines for variant interpretation in Mendelian disease set stringent
criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate …

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

…, CR Gignoux, SE Graham, WE Hornsby, N Ingold… - 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 …

Genetic variants associated with cancer therapy–induced cardiomyopathy

…, I Serrano, W Midwinter, A Wilk, A Bardaji, N Ingold… - Circulation, 2019 - Am Heart Assoc
Background: Cancer therapy–induced cardiomyopathy (CCM) is associated with cumulative
drug exposures and preexisting cardiovascular disorders. These parameters incompletely …

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

…, CR Gignoux, SE Graham, WE Hornsby, N Ingold… - 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] Associations of sleep apnoea with glaucoma and age-related macular degeneration: an analysis in the United Kingdom Biobank and the Canadian …

X Han, SSY Lee, N Ingold, N McArdle, AP Khawaja… - BMC medicine, 2021 - Springer
Background Sleep apnoea, a common sleep-disordered breathing condition, is characterised
by upper airway collapse during sleep resulting in transient hypoxia, hypoperfusion of the …

[HTML][HTML] Is genetic risk for sleep apnea causally linked with glaucoma susceptibility?

N Ingold, AI Campos, X Han, JS Ong… - … & visual science, 2022 - tvst.arvojournals.org
Purpose: Observational studies have suggested that individuals with pre-existing sleep
apnea (SA) have up to double the risk of developing glaucoma than individuals without SA. …

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell …

…, S Sanna, IM Nolte, Y Okada, N Ingold… - medRxiv, 2021 - medrxiv.org
Primary open-angle glaucoma (POAG) is a complex eye disease characterized by progressive
loss of optic nerve function that, if untreated, ultimately leads to irreversible blindness. To …

Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring

AI Campos, N Ingold, Y Huang, BL Mitchell, PF Kho… - Sleep, 2023 - academic.oup.com
Study Objectives Despite its association with severe health conditions, the etiology of sleep
apnea (SA) remains understudied. This study sought to identify genetic variants robustly …

Genetic analysis of perceived youthfulness reveals differences in how men's and women's age is assessed

N Ingold, M Seviiri, JS Ong, S Gordon, RE Neale… - Journal of Investigative …, 2024 - Elsevier
Skin aging is a natural process that occurs over time, but can be accelerated by sun
exposure. Measuring skin age in a large population can provide insight into the extent of skin …