Estimating genome-wide significance for whole-genome sequencing studies
Open accessAbstract
Although a standard genome-wide significance level has been accepted for the testing of association between common genetic variants and disease, the era of whole-genome sequencing (WGS) requires a new threshold. The allele frequency spectrum of sequence-identified variants is very different from common variants, and the identified rare genetic variation is usually jointly analyzed in a series of genomic windows or regions. In nearby or overlapping windows, these test statistics will be correlated, and the degree of correlation is likely to depend on the choice of window size, overlap, and the test statistic. Furthermore, multiple analyses may be performed using different windows or test statistics. Here we propose an empirical approach for estimating genome-wide significance thresholds for data arising from WGS studies, and we demonstrate that the empirical threshold can be efficiently estimated by extrapolating from calculations performed on a small genomic region. Because analysis of WGS may need to be repeated with different choices of test statistics or windows, this prediction approach makes it computationally feasible to estimate genome-wide significance thresholds for different analysis choices. Based on UK10K whole-genome sequence data, we derive genome-wide significance thresholds ranging between 2.5 × 10(-8) and 8 × 10(-8) for our analytic choices in window-based testing, and thresholds of 0.6 × 10(-8) -1.5 × 10(-8) for a combined analytic strategy of testing common variants using single-SNP tests together with rare variants analyzed with our sliding-window test strategy.
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Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,317 · see citing works
Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix
Li, J., & Ji, L. (2005) · Heredity · doi:10.1038/sj.hdy.6800717 · Cited by 1,458 · see citing works
Lee, S., Emond, M. J., Bamshad, M. J., Barnes, K. C., Rieder, M. J., Nickerson, D. A., Christiani, D. C., Wurfel, M. M., & Lin, X. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.007 · Cited by 1,040 · see citing works
Li, M.-X., Yeung, J. M. Y., Cherny, S. S., & Sham, P. C. (2012) · Human Genetics · doi:10.1007/s00439-011-1118-2 · Cited by 962 · see citing works
Gao, X., Starmer, J., & Martin, E. R. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20310 · Cited by 849 · see citing works
Pe'er, I., Yelensky, R., Altshuler, D., & Daly, M. J. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20303 · Cited by 783 · see citing works
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
Price, A. L., Kryukov, G. V., de Bakker, P. I. W., Purcell, S. M., Staples, J., Wei, L.-J., & Sunyaev, S. R. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.005 · Cited by 755 · see citing works
Estimation of significance thresholds for genomewide association scans
Dudbridge, F., & Gusnanto, A. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20297 · Cited by 703 · see citing works
A simple correction for multiple comparisons in interval mapping genome scans
Cheverud, J. M. (2001) · Heredity · doi:10.1046/j.1365-2540.2001.00901.x · Cited by 421 · see citing works
On multiple‐testing correction in genome‐wide association studies
Moskvina, V., & Schmidt, K. M. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20331 · Cited by 266 · see citing works
Wood, A. R., Perry, J. R. B., Tanaka, T., Hernandez, D. G., Zheng, H.-F., Melzer, D. R., Gibbs, J. R., Nalls, M. A., Weedon, M. N., Spector, T. D., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064343 · Cited by 75 · see citing works
Effect of Genome-Wide Genotyping and Reference Panels on Rare Variants Imputation
Zheng, H., Ladouceur, M., Greenwood, C. M. T., & Richards, J. B. (2012) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2012.07.002 · Cited by 40 · see citing works
Self-citationChen, Z., & Liu, Q. (2011) · Human Heredity · doi:10.1159/000330135 · Cited by 21 · see citing works
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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works
Self-citationThe UK10K project identifies rare variants in health and disease
The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature · doi:10.1038/nature14962 · Cited by 1,040 · see citing works
Self-citationA Review of Feature Selection Methods for Machine Learning-Based Disease Risk Prediction
Pudjihartono, N., Fadason, T., Kempa-Liehr, A. W., & O'Sullivan, J. M. (2022) · Frontiers in Bioinformatics · doi:10.3389/fbinf.2022.927312 · Cited by 965 · see citing works
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
Zheng, H., Forgetta, V., Hsu, Y., Estrada, K., Roselló‐Díez, A., Leo, P. J., Dahia, C. L., Park‐Min, K. H., Tobias, J. H., Kooperberg, C. L., et al. (2015) · Nature · doi:10.1038/nature14878 · Cited by 593 · see citing works
Self-citationGenetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434 · see citing works
Self-citationWhole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Long, T., Hicks, M. A., Yu, H., Biggs, W., Kirkness, E. F., Menni, C., Zierer, J., Small, K. S., Mangino, M., Messier, H., et al. (2017) · Nature Genetics · doi:10.1038/ng.3809 · Cited by 419 · see citing works
Polygenic basis and biomedical consequences of telomere length variation
Codd, V., Wang, Q., Allara, E., Musicha, C., Kaptoge, S. K., Stoma, S., Jiang, T., Hamby, S. E., Braund, P. S., Bountziouka, V. P., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00944-6 · Cited by 376 · see citing works
Sidore, C., Busonero, F., Maschio, A., Porcu, E., Naitza, S., Żołędziewska, M., Mulas, A., Pistis, G., Steri, M., Danjou, F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3368 · Cited by 376 · see citing works
Self-citationEvolution of Reporting <i>P</i> Values in the Biomedical Literature, 1990-2015
Chavalarias, D., Wallach, J. D., Li, A. H. T., & Ioannidis, J. P. A. (2016) · JAMA · doi:10.1001/jama.2016.1952 · Cited by 370 · see citing works
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa
Gurdasani, D., Carstensen, T., Fatumo, S., Chen, G., Franklin, C. S., Prado-Martinez, J., Bouman, H. J., Abascal, F., Haber, M., Tachmazidou, I., et al. (2019) · Cell · doi:10.1016/j.cell.2019.10.004 · Cited by 253 · see citing works
Self-citationEppinga, R. N., Hagemeijer, Y. P., Burgess, S., Hinds, D. A., Stefánsson, K., Gudbjartsson, D. F., van Veldhuisen, D. J., Munroe, P. B., Verweij, N., & van der Harst, P. (2016) · Nature Genetics · doi:10.1038/ng.3708 · Cited by 148 · see citing works
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Forgetta, V., Manousaki, D., Istomine, R., Ross, S. A., Tessier, M.-C., Marchand, L., Li, M., Qu, H., Bradfield, J. P., Grant, S. F. A., et al. (2020) · Diabetes · doi:10.2337/db19-0831 · Cited by 140 · see citing works
Genetic architecture of human thinness compared to severe obesity
Riveros-Mckay, F., Mistry, V., Bounds, R., Hendricks, A. E., Keogh, J. M., Thomas, H., Henning, E., Corbin, L. J., Understanding Society Scientific Group, O’Rahilly, S., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1007603 · Cited by 138 · see citing works
Self-citationManousaki, D., Dudding, T., Haworth, S. J., Hsu, Y., Liu, C., Medina‐Gómez, C., Voortman, T., van der Velde, N., Melhus, H., Robinson‐Cohen, C., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.014 · Cited by 135 · see citing works
Self-citationButler‐Laporte, G., Kreuzer, D., Nakanishi, T., Harroud, A., Forgetta, V., & Richards, J. B. (2020) · Open Forum Infectious Diseases · doi:10.1093/ofid/ofaa450 · Cited by 135 · see citing works
Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure
Haas, M. E., Aragam, K. G., Emdin, C. A., Bick, A. G., Hemani, G., Smith, G. D., & Kathiresan, S. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.08.004 · Cited by 132 · see citing works
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Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works
“testing all independent SNPs in the human genome [83]).”
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Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications · doi:10.1038/ncomms6681 · Cited by 104 · see citing works
Self-citationGenome–microbiome interplay provides insight into the determinants of the human blood metabolome
Diener, C., Dai, C. L., Wilmanski, T., Baloni, P., Smith, B., Rappaport, N., Hood, L., Magis, A. T., & Gibbons, S. M. (2022) · Nature Metabolism · doi:10.1038/s42255-022-00670-1 · Cited by 102 · see citing works
Schmitz, D., Ek, W. E., Berggren, E., Höglund, J., Karlsson, T., & Johansson, Å. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab507 · Cited by 94 · see citing works
Mullin, B. H., Walsh, J. P., Zheng, H., Brown, S. J., Surdulescu, G. L., Curtis, C. J. C., Breen, G. D., Dudbridge, F., Richards, J. B., Spector, T. D., et al. (2016) · BMC Genomics · doi:10.1186/s12864-016-2481-0 · Cited by 74 · see citing works
Pulit, S. L., de With, S. A. J., & de Bakker, P. I. W. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22032 · Cited by 67 · see citing works
Addressing Population‐Specific Multiple Testing Burdens in Genetic Association Studies
Sobota, R. S., Shriner, D., Kodaman, N. M., Goodloe, R., Zheng, W., Gao, Y., Edwards, T. L., Amos, C. I., & Williams, S. M. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12095 · Cited by 65 · see citing works
Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders
Holmans, P., Massey, T. H., & Jones, L. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx261 · Cited by 65 · see citing works
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Lehnart, S. E., & Wehrens, X. H. T. (2022) · Physiological Reviews · doi:10.1152/physrev.00024.2021 · Cited by 60 · see citing works
Sarnowski, C., Leong, A., Raffield, L. M., Wu, P., de Vries, P. S., DICORPO, D. A., Guo, X., Xu, H., Liu, Y., Zheng, X., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.010 · Cited by 60 · see citing works
The germline genetic component of drug sensitivity in cancer cell lines
Menden, M. P., Casale, F. P., Stephan, J., Bignell, G. R., Iorio, F., McDermott, U., Garnett, M. J., Sáez-Rodríguez, J., & Stegle, O. (2018) · Nature Communications · doi:10.1038/s41467-018-05811-3 · Cited by 54 · see citing works
Cristea, I. A., & Ioannidis, J. P. A. (2018) · PLoS ONE · doi:10.1371/journal.pone.0197440 · Cited by 55 · see citing works
Choudhury, A., Brandenburg, J., Chikowore, T., Sengupta, D., Boua, P. R., Crowther, N. J., Agongo, G., Asiki, G., Gómez-Olivé, F. X., Kisiangani, I., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30098-w · Cited by 51 · see citing works
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Sarnowski, C., Satizábal, C. L., DeCarli, C. S., Pitsillides, A., Cupples, L. A., Vasan, R. S., Wilson, J. G., Bis, J. C., Fornage, M., Beiser, A., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004820 · Cited by 43 · see citing works
Akbari, P., Vuckovic, D., Stefanucci, L., Jiang, T., Kundu, K., Kreuzhuber, R., Bao, E. L., Collins, J., Downes, K., Grassi, L., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40679-y · Cited by 35 · see citing works
Self-citationXu, Y., Vuckovic, D., Ritchie, S. C., Akbari, P., Jiang, T., Grealey, J., Butterworth, A. S., Ouwehand, W. H., Roberts, D. J., Angelantonio, E. D., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2021.100086 · Cited by 32 · see citing works
Population-based genetic effects for developmental stuttering
Polikowsky, H. G., Shaw, D. M., Petty, L. E., Chen, H., Pruett, D. G., Linklater, J. P., Viljoen, K. Z., Beilby, J. M., Highland, H. M., Levitt, B. E., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100073 · Cited by 30 · see citing works
Lin, D. Y. (2019) · Genetic Epidemiology · doi:10.1002/gepi.22183 · Cited by 27 · see citing works
Rare variant association testing in the non-coding genome
Bocher, O., & Génin, E. (2020) · Human Genetics · doi:10.1007/s00439-020-02190-y · Cited by 24 · see citing works
Gut microbiota composition in colorectal cancer patients is genetically regulated
Colombo, F., Illescas, O., Noci, S., Minnai, F., Pintarelli, G., Pettinicchio, A., Vannelli, A., Sorrentino, L., Battaglia, L., Cosimelli, M., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-15230-6 · Cited by 24 · see citing works
Genetic association studies in cardiovascular diseases: Do we have enough power?
Auer, P. L., & Stitziel, N. O. (2017) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2017.03.005 · Cited by 21 · see citing works
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Dommisch, H., Hoedke, D., Lu, E. M., Schäefer, A. S., Richter, G. M., Kang, J. X., & Nibali, L. (2025) · Journal Of Clinical Periodontology · doi:10.1111/jcpe.14149 · Cited by 12 · see citing works
Wessel, J., Majarian, T. D., Highland, H. M., Raghavan, S., Szeto, M. D., Hasbani, N. R., de Vries, P. S., Brody, J. A., Sarnowski, C., DICORPO, D. A., et al. (2020) · medRxiv · doi:10.1101/2020.11.13.20221812 · Cited by 13 · see citing works
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Wei, C., Li, M., He, Z., Vsevolozhskaya, O. A., Schaid, D. J., & Lu, Q. (2014) · Genetic Epidemiology · doi:10.1002/gepi.21864 · Cited by 11 · see citing works
Li, Z., Wang, W., Tian, X., Duan, H., Xu, C., & Zhang, D. (2021) · PLoS ONE · doi:10.1371/journal.pone.0246436 · Cited by 10 · see citing works
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Zhang, S., Yan, G., Lekired, A., & Zhong, D. (2024) · iScience · doi:10.1016/j.isci.2024.111520 · Cited by 9 · see citing works
Xu, C., Ciampi, A., & Greenwood, C. M. T. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00011 · Cited by 9 · see citing works
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Kim, H., Lee, T., Choi, J. K., & Jeong, Y. (2020) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000422 · Cited by 9 · see citing works
Sarnowski, C., Chen, H., Biggs, M. L., Wassertheil-Smoller, S. W., Bressler, J., Irvin, M. R., Ryan, K. A., Karasik, D., Arnett, D. K., Cupples, L. A., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0253611 · Cited by 9 · see citing works
Fier, H. L., Prokopenko, D., Hecker, J., Cho, M. H., Silverman, E. K., Weiss, S. T., Tanzi, R. E., & Lange, C. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22040 · Cited by 9 · see citing works
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López, J., Coll, J., Haimel, M., Kandasamy, S., Tárraga, J., Furió-Tarí, P., Bari, W., Bleda, M., Rueda, A., Gräf, S., et al. (2017) · Nucleic Acids Res. · doi:10.1093/nar/gkx445 · Cited by 10 · see citing works
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Bustamante, M., Balagué-Dobón, L., Buko, Z., Sakhi, A. K., Casas, M., Maître, L., Andrušaitytė, S., Gražulevičienė, R., Gützkow, K. B., Brantsæter, A. L., et al. (2024) · Environment International · doi:10.1016/j.envint.2024.108845 · Cited by 7 · see citing works
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Leem, S., Huh, I., & Park, T. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00509 · Cited by 7 · see citing works
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Nikogosov, D. A., Shevlyakov, A., & Baranova, A. V. (2020) · The Journals of Gerontology Series A · doi:10.1093/gerona/glaa202 · Cited by 7 · see citing works
Jiang, D., & Wang, M. (2018) · Biostatistics & Epidemiology · doi:10.1080/24709360.2018.1529346 · Cited by 6 · see citing works
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Akbari, P., Vuckovic, D., Jiang, T., Kundu, K., Kreuzhuber, R., Bao, E. L., Mayer, L., Collins, J., Downes, K., Georges, M., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.01.30.927483 · Cited by 7 · see citing works
Self-citationRatnapriya, R., Grassman, F., Chen, R., Hewitt, A. W., Du, J., Saban, D. R., Klaver, C. C. W., Ash, J. D., Stambolian, D., Tumminia, S. J., et al. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110344 · Cited by 6 · see citing works
Mei, S., Karimnezhad, A., Forest, M., Bickel, D. R., & Greenwood, C. M. T. (2017) · PLoS ONE · doi:10.1371/journal.pone.0185174 · Cited by 6 · see citing works
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He, Q., Liu, H., Lu, L., Zhang, Q., Wang, Q., Wang, B., Wu, X., Guan, L., Mao, J., Xue, Y., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100668 · Cited by 6 · see citing works
Minică, C. C., Genovese, G., Hultman, C. M., Pool, R., Vink, J. M., Neale, M. C., Dolan, C. V., & Neale, B. M. (2017) · Twin Research and Human Genetics · doi:10.1017/thg.2017.7 · Cited by 6 · see citing works
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Cheruiyot, E. K., Yang, T., & McRae, A. F. (2025) · Genetics · doi:10.1093/genetics/iyaf056 · Cited by 5 · see citing works
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Cahill, M. E., Loeb, M. B., DeWan, A. T., & Montgomery, R. R. (2020) · Vaccines · doi:10.3390/vaccines8040744 · Cited by 5 · see citing works
Sarnowski, C., Leong, A., Raffield, L. M., Wu, P., de Vries, P. S., DICORPO, D. A., Guo, X., Xu, H., Liu, Y., Zheng, X., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/643932 · Cited by 5 · see citing works
Martín-Campos, J. M. (2021) · Biomedicines · doi:10.3390/biomedicines9111728 · Cited by 4 · see citing works
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Škorjanc, A., Smrkolj, V., & Umek, N. (2025) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2025.110185 · Cited by 4 · see citing works
Graffelman, J., & Ortoleva, L. (2021) · Molecular Ecology Resources · doi:10.1111/1755-0998.13373 · Cited by 4 · see citing works
Hu, X., Jiang, X., Li, J., Zhao, N., Gan, H., Hu, X., Li, L., Liu, X., Shan, H., Bai, Y., et al. (2023) · iScience · doi:10.1016/j.isci.2023.107287 · Cited by 3 · see citing works
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Levinson, S. S. (2020) · The Journal of Applied Laboratory Medicine · doi:10.1093/jalm/jfaa148 · Cited by 3 · see citing works
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Barot, S., Vermani, L., Blom, J., Larsson, S. C., Liljegren, A., & Lindblom, A. (2024) · Clinical and Translational Gastroenterology · doi:10.14309/ctg.0000000000000790 · Cited by 3 · see citing works
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Söderman, J., & Almer, S. H. (2024) · Gastro Hep Advances · doi:10.1016/j.gastha.2024.02.009 · Cited by 2 · see citing works
Xu, I. R. L., Danzi, M. C., Ruiz, A., Raposo, J. S., Arcia, Y., Reilly, M. M., Cortese, A., Shy, M. E., Scherer, S. S., Herrmann, D. N., et al. (2024) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12621 · Cited by 2 · see citing works
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Riveros-Mckay, F., Mistry, V., Bounds, R., Hendricks, A. E., Keogh, J. M., Thomas, H., Henning, E., Corbin, L. J., Society Scientific Group Understanding, O’Rahilly, S., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.11.1 · Cited by 3 · see citing works
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Zhu, M. (2023) · SSRN Electronic Journal · doi:10.2139/ssrn.4396035 · Cited by 2 · see citing works
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Cheruiyot, E. K., Yang, T., & McRae, A. F. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.09.627629 · Cited by 2 · see citing works
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Levinson, S. S. (2025) · Clinica Chimica Acta · doi:10.1016/j.cca.2025.120655 · Cited by 1 · see citing works
The genomic basis of adaptive leaf variation in the Galápagos giant daisies
Bieker, V. C., Li, S., Cerca, J., Battlay, P., Falahati‐Anbaran, M., Sharma, A., Díaz, P. J., Fernández‐Mazuecos, M., Ramos‐Madrigal, J., Martin, S. L. F., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-71865-3 · Cited by 1 · see citing works
Abdalla, O. H. M. H., Dunlop, E., Wilson, T. S., Reardon, P. K., Iqbal, M., Tam, S. K. E., Vyazovskiy, V. V., Ray, D. W., Brown, L. A., Cheng, H. M., et al. (2026) · Neurobiology of Sleep and Circadian Rhythms · doi:10.1016/j.nbscr.2026.100149 · Cited by 1 · see citing works
Sun, J., Oualkacha, K., Forgetta, V., Zheng, H.-F., Richards, J. B., Evans, D. S., ORWOLL, E. S., & Greenwood, C. M. T. (2018) · Scientific Reports · doi:10.1038/s41598-017-18385-9 · Cited by 1 · see citing works
Self-citationRare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Rossi, N., Syed, N., Visconti, A., ALIYEV, E. E., Berry, S. E., Bourbon, M., Spector, T. D., Hysi, P. G., Fakhro, K. A., & Falchi, M. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00417-9 · Cited by 1 · see citing works
Enhanced adaptive permutation test with negative binomial distribution in genome-wide omics datasets
Huh, I., & Park, T. (2024) · Genes & Genomics · doi:10.1007/s13258-024-01584-w · Cited by 1 · see citing works
Significance Thresholds for Rare Variant Signals
Greenwood, C. M. T., Xu, C., & Ciampi, A. (2015) · Springer eBooks · doi:10.1007/978-1-4939-2824-8_12 · Cited by 1 · see citing works
Self-citationMinică, C. C., Genovese, G., Hultman, C. M., Pool, R., Vink, J. M., Dolan, C. V., & Neale, B. M. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/020198 · Cited by 1 · see citing works
Jin, M., Shan, Y., Peng, Y., Chen, S., Zhou, X., Liu, K., & Xiao, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.30.605831 · Cited by 1 · see citing works
Current Study Designs, Methods, and Future Directions of Genetic Association Mapping
Jackson, J., & Motsinger‐Reif, A. A. (2015) · Advances in bioinformatics and biomedical engineering book series · doi:10.4018/978-1-4666-6611-5.ch014
Bone and Phosphate in Relation to Health, Survival and Genetic Factors
Campos‐Obando, N. (2020)
Is there a biosignature for lithium response in bipolar disorder? Evidence and implications
Fornaro, M., Anastasia, A., Fusco, A., & Carvalho, A. F. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819182-8.00034-x
Galwey, N. W. (2024) · doi:10.1002/9781119889809.ch1
Wheeler, L. C., Larter, M., & Smith, S. D. (2025) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkaf230
Genetic Variants Associated with Platelet Reactivity-Mediated Thrombosis
Astle, W. J., Jones, C. I., & Turro, E. (2025) · Springer eBooks · doi:10.1007/978-3-031-96352-0_14
Ouyang, J., Zhang, R., Lv, W., & Lu, Y. (2025) · BMC Gastroenterology · doi:10.1186/s12876-025-04445-2
Wang, N., DICORPO, D. A., Zhang, Y., Kleinbrink, E. L., Arnett, D. K., Barnard, J., Blangero, J., Bowden, D. W., Carson, A. P., Chen, Y. I., et al. (2026) · Diabetes · doi:10.2337/db25-0557
- Authors
- Xu, C., Tachmazidou, I., Walter, K., Ciampi, A., Zeggini, E., Greenwood, C. M. T., & the UK10K Consortium
- Affiliations
- Jewish General Hospital (CA)
- Wellcome Sanger Institute (GB)
- McGill University (CA)
- Corresponding author
- Greenwood, Celia M. T.
- Venue
- Genetic Epidemiology
- Publisher
- Wiley
- Published
- 2014-02-14
- Volume
- 38
- Issue
- 4
- Pages
- 281-290
- ISSN
- 0741-0395 (ISSN-L)
- 1098-2272
- PMC
- PMC4489336
- OpenAlex
- W1554193366
- Cited by
- 93
- References
- 14
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 11 · 2023: 8 · 2022: 6 · 2021: 7 · 2020: 13 · 2019: 6 · 2018: 5 · 2017: 10 · 2016: 5 · 2015: 8 · 2014: 2
- FWCI
- 5.47
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Genetic Epidemiology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research (MOP-115110)
- Wellcome Trust (098051, WT091310)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- whole genome sequencing, rare variants, allele frequency spectrum, common genetic variants, multiple testing correction
- MeSH terms
- Chromosomes, Human, Pair 3, Data Interpretation, Statistical, Humans, Genome, Human, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, High-Throughput Nucleotide Sequencing
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