Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes

Authors: Zou, Xueqing Zoe; Hu, Fengyuan; Lou, Haiyi; Burren, Oliver S.; Li, Xiaoyin; Megy, Karyn; Wheeler, Eleanor; Wu, Qiang; Atanur, Santosh S.; Karpinski, Marcin; Loesch, Douglas; Fairhurst-Hunter, Zammy; Deevi, Sri V. V.; Oerton, Erin; Wen, Sean; Jiang, Xiao; Salvoro, Cecilia; Mitchell, Jonathan; Nag, Abhishek; Hollis, Ben; O’Neill, Amanda; Anderson-Dring, Lauren; Bohlooly-Y, Mohammad; Buvall, Lisa; Cameron-Christie, Sophia; Prins, Bram; Cohen, Suzanne; Danielson, Regina F.; Davis, Andrew; Ding, Wei; Dougherty, Brian; Garg, Manik; Georgi, Benjamin; Harper, Andrew; Haefliger, Carolina; Hammar, Mårten; Hanna, Richard N.; Henry, Ian; Kundu, Kousik; Lai, Zhongwu; Lal, Mark; Lassi, Glenda; Liang, Yupu; Lopes, Margarida; Lythgow, Kieren; Maisuria-Armer, Meeta; March, Ruth; Matelska, Dorota; Menzies, Rob; Michaëlsson, Erik; Mowrey, Bill; Muthas, Daniel; Ohne, Yoichiro; Pullman, Benjamin; Hess, Sonja; Raies, Arwa; Reznichenko, Anna; Romero Ros, Xavier; Stevens, Helen; Tachmazidou, Ioanna; Viollet, Coralie; Vitsios, Dimitrios; Walentinsson, Anna; Wang, Lily; Wang, Qing-Dong; Cuomo, Anna; Martin Herranz, Daniel Elias; O’Connell, Jared; Del-Aguila, Jorge L.; Konkar, Anish; Challis, Benjamin; Platt, Adam; Ort, Tatiana; Garnett, James; Peng, Xiao-Rong; Baumberg, Gabrielle; Frydrych, Natalia; Stefanucci, Luca; Szymaniak, Anna; Tsakiroglou, Anna Maria; Sharma, Rahul; Harrow, Jen; MacArthur, Stewart; Wasilewski, Sebastian; O’Dell, Sean; Tian, Lifeng; Smith, Katherine R.; del Angel, Guillermo; Fabre, Margarete; Dhindsa, Ryan S.; Wang, Quanli; Petrovski, Slavé; Carss, Keren

Nature, 4 Feb 2026

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Cohorts in this study

Phenotype: ME/CFS

AGR2, C16orf74, CERK, CLDN12, CLPS, CLPSL1, DLGAP2, DNAL1, DPP10-AS1, DUXA, EPIC1, FBN2, FBXL22, FUCA1, GINS2, GSE1, ITGAE, KIR2DL4, LATS2, LINC00857, LINC01063, LINC01324, LINC01644, LINC01685, LINC02027, LINC02241, LINC02726, LRRK1, LYPD2, MCEE, MIR4764, MIR6082, MPHOSPH10, NAGK, PAIP2B, RP1L1, SFTPD, SGK3, SLC17A9, SMIM15, SNAI3, SNAI3-AS1, TBC1D22A-DT, TECPR2, TPO, TSPAN13, USP3, YWHAEP7, ZNF439, ZNF804B

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Notes

50 most significant protein-coding genes for phenotype "120010#Ever had chronic Fatigue Syndrome or Myalgic Encephalomyelitis (M.E.)" from summary stats file "phewas_ukb500k_cnv-all_NFE_binary.csv.xz" (gene-level test based on presence of copy number variants, non-Finnish European ancestry).