Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

Autor: Currant, Hannah^1,2 (AUTHOR), Fitzgerald, Tomas W.¹ (AUTHOR), Patel, Praveen J.³ (AUTHOR), Khawaja, Anthony P.³ (AUTHOR), Webster, Andrew R.³ (AUTHOR), Mahroo, Omar A.^3,4,5 (AUTHOR) o.mahroo@ucl.ac.uk, Birney, Ewan¹ (AUTHOR) o.mahroo@ucl.ac.uk

Publikováno v: PLoS Genetics. 2/27/2023, Vol. 18 Issue 2, p1-23. 23p.

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Autor: Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, Wiggs, Janey L

Publikováno v: Nature Communications, 12(1):1258. Nature Publishing Group
NEIGHBORHOOD Consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group & 23 and Me Research Team 2021, ' Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries ', Nature Communications, vol. 12, no. 1, 1258 . https://doi.org/10.1038/s41467-020-20851-4
Nature Communications
Nature communications, vol 12, iss 1
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, 12
Nature Communications, 12, 1

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7d731b3bc4c940606176a1a6a7f6af
https://pure.eur.nl/en/publications/729a5ab4-4899-4eec-b043-33a2963a1b20

Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank

Autor: Khawaja, Anthony P., Chua, Sharon, Hysi, Pirro G., Georgoulas, Stelios, Currant, Hannah, Fitzgerald, Tomas W., Birney, Ewan, Ko, Fang, Yang, Qi, Reisman, Charles, Garway-Heath, David F., Hammond, Chris J., Khaw, Peng T., Foster, Paul J., Patel, Praveen J., Strouthidis, Nicholas

Publikováno v: Khawaja, A P, Chua, S, Hysi, P G, Georgoulas, S, Currant, H, Fitzgerald, T W, Birney, E, Ko, F, Yang, Q, Reisman, C, Garway-Heath, D F, Hammond, C J, Khaw, P T, Foster, P J, Patel, P J, Strouthidis, N & UK Biobank Eye and Vision Consortium 2020, ' Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank ', Ophthalmology, vol. 127, no. 1, pp. 62-71 . https://doi.org/10.1016/j.ophtha.2019.08.015
Ophthalmology, 127(1), 62-71. Elsevier Inc.

Purpose: To describe and compare associations with macular retinal nerve fiber layer (mRNFL), ganglion cell complex (GCC), and ganglion cell–inner plexiform layer (GCIPL) thicknesses in a large cohort. Design: Cross-sectional study. Participants: W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c269e7b07f96d791ce9ac8eedebef1ae
https://research.vumc.nl/en/publications/62c868f7-9f2b-4479-8ab0-97f211331ac4

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MLCut : exploring Multi-Level Cuts in dendrograms for biological data

Autor: Vogogias, Athanasios, Kennedy, Jessie, Archaumbault, Daniel, Smith, Victoria Anne, Currant, Hannah

Choosing a single similarity threshold for cutting dendrograms is not sufficient for performing hierarchical clustering analysis of heterogeneous data sets. In addition, alternative automated or semi-automated methods that cut dendrograms in multiple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______901::c4cbda37d451792455b8c7ee6921bb60
https://hdl.handle.net/10023/9518