Genetics

He W, Han X, Ong JS, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S; International Glaucoma Genetics Consortium. Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging. JAMA Ophthalmol. 2022 Jun 1;140(6):568-576. doi: 10.1001/jamaophthalmol.2022.0891. PMID: 35446358.

Seviiri M, Law MH, Ong JS, Gharahkhani P, Fontanillas P; 23andMe Research Team; Olsen CM, Whiteman DC, MacGregor S. A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma. Nat Commun. 2022 Dec 10;13(1):7650. doi: 10.1038/s41467-022-35345-8. PMID: 36496446.

Han X, Steven K, Qassim A, Marshall HN, Bean C, Tremeer M, An J, Siggs OM, Gharahkhani P, Craig JE, Hewitt AW, Trzaskowski M, MacGregor S. Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA. Am J Hum Genet. 2021 Jul 1;108(7):1204-1216. doi: 10.1016/j.ajhg.2021.05.005. Epub 2021 Jun 1. PMID: 34077762.

Menniti G, Paquet C, Han HY, Dube L, Nielsen DE. Multiscale Risk Factors of Cardiovascular Disease: CLSA Analysis of Genetic and Psychosocial Factors. Front Cardiovasc Med. 2021 Mar 16;8:599671. doi: 10.3389/fcvm.2021.599671. PMID: 33796568.

Han X, Steven K, Qassim A, Marshall HN, Bean C, Tremeer M, An J, Siggs OM, Gharahkhani P, Craig JE, Hewitt AW, Trzaskowski M, MacGregor S. Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA. Am J Hum Genet. 2021 Jul 1;108(7):1204-1216. doi: 10.1016/j.ajhg.2021.05.005. Epub 2021 Jun 1. PMID: 34077762; PMCID: PMC8322932.

Forgetta V, Keller-Baruch J, Forest M, Durand A, Bhatnagar S, Kemp JP, Nethander M, Evans D, Morris JA, Kiel DP, Rivadeneira F, Johansson H, Harvey NC, Mellström D, Karlsson M, Cooper C, Evans DM, Clarke R, Kanis JA, Orwoll E, McCloskey EV, Ohlsson C, Pineau J, Leslie WD, Greenwood CMT, Richards JB. Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study. PLoS Med. 2020 Jul 2;17(7):e1003152. doi: 10.1371/journal.pmed.1003152. PMID: 32614825.

Ma J, Thabane L, Beyene J, Raina P. Power Analysis for Population-Based Longitudinal Studies Investigating Gene-Environment Interactions in Chronic Diseases: A Simulation Study. PLoS One. 2016 Feb 22;11(2):e0149940. doi: 10.1371/journal.pone.0149940. PMID: 26901422; PMCID: PMC4762766.