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2023 Journal Article OTTERS: a powerful TWAS framework leveraging summary-level reference dataDai, Qile, Zhou, Geyu, Zhao, Hongyu, Võsa, Urmo, Franke, Lude, Battle, Alexis, Teumer, Alexander, Lehtimäki, Terho, Raitakari, Olli T., Esko, Tõnu, Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand Kumar, Arindrarto, Wibowo, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark W., Claringbould, Annique, Deelen, Patrick, Favé, Marie-Julie, Frayling, Timothy, Gharib, Sina A., Gibson, Greg, Heijmans, Bastiaan T., Hemani, Gibran ... Yang, Jingjing (2023). OTTERS: a powerful TWAS framework leveraging summary-level reference data. Nature Communications, 14 (1) 1271, 1-13. doi: 10.1038/s41467-023-36862-w |
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2023 Journal Article Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin DWang, Xiaotong, Hivert, Valentin, Groot, Shiane, Wang, Ying, Yengo, Loic, McGrath, John J., Kemper, Kathryn E., Visscher, Peter M., Wray, Naomi R. and Revez, Joana A. (2023). Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D. PLoS Genetics, 19 (11) e1011033, e1011033. doi: 10.1371/journal.pgen.1011033 |
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2023 Journal Article Community-wide genome sequencing reveals 30 years of Darwin’s finch evolutionEnbody, Erik D., Sendell-Price, Ashley T., Sprehn, C. Grace, Rubin, Carl-Johan, Visscher, Peter M., Grant, B. Rosemary, Grant, Peter R. and Andersson, Leif (2023). Community-wide genome sequencing reveals 30 years of Darwin’s finch evolution. Science, 381 (6665) eadf6218, 1-10. doi: 10.1126/science.adf6218 |
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2023 Journal Article Boosting the power of genome-wide association studies within and across ancestries by using polygenic scoresCampos, Adrian I., Namba, Shinichi, Lin, Shu-Chin, Nam, Kisung, Sidorenko, Julia, Wang, Huanwei, Kamatani, Yoichiro, The Biobank Japan Project, Wang, Ling-Hua, Lee, Seunggeun, Lin, Yen-Feng, Feng, Yen-Chen Anne, Okada, Yukinori, Visscher, Peter M. and Yengo, Loic (2023). Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores. Nature Genetics, 55 (10), 1769-1776. doi: 10.1038/s41588-023-01500-0 |
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2023 Journal Article Chromosomal inversion polymorphisms shape human brain morphologyWang, Hao, Makowski, Carolina, Zhang, Yanxiao, Qi, Anna, Kaufmann, Tobias, Smeland, Olav B., Fiecas, Mark, Yang, Jian, Visscher, Peter M. and Chen, Chi-Hua (2023). Chromosomal inversion polymorphisms shape human brain morphology. Cell Reports, 42 (8) 112896, 112896. doi: 10.1016/j.celrep.2023.112896 |
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2023 Journal Article Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptionsMaury, Eduardo A., Sherman, Maxwell A., Genovese, Giulio, Gilgenast, Thomas G., Kamath, Tushar, Burris, S. J., Rajarajan, Prashanth, Flaherty, Erin, Akbarian, Schahram, Chess, Andrew, McCarroll, Steven A., Loh, Po-Ru, Phillips-Cremins, Jennifer E., Brennand, Kristen J., Macosko, Evan Z., Walters, James T.R., O'Donovan, Michael, Sullivan, Patrick, Marshall, Christian R., Merico, Daniele, Thiruvahindrapuram, Bhooma, Wang, Zhouzhi, Scherer, Stephen W., Howrigan, Daniel P, Ripke, Stephan, Bulik-Sullivan, Brendan, Farh, Kai-How, Fromer, Menachem, Goldstein, Jacqueline I. ... Walsh, Christopher A. (2023). Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell Genomics, 3 (8) 100356, 1-21. doi: 10.1016/j.xgen.2023.100356 |
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2023 Journal Article Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypesWu, Yang, Qi, Ting, Wray, Naomi R., Visscher, Peter M., Zeng, Jian and Yang, Jian (2023). Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypes. Cell Genomics, 3 (8) 100344, 100344. doi: 10.1016/j.xgen.2023.100344 |
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2023 Journal Article Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritabilityWang, Xiaotong, Walker, Alicia, Revez, Joana A., Ni, Guiyan, Visscher, Peter M., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R.I., Colodro-Conde, Lucía ... Sullivan, Patrick F. (2023). Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability. The American Journal of Human Genetics, 110 (7), 1207-1215. doi: 10.1016/j.ajhg.2023.06.006 |
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2023 Journal Article Rare genetic variants underlie outlying levels of DNA methylation and gene-expressionChundru, V. Kartik, Marioni, Riccardo E., Pendergast, James G. D., Lin, Tian, Beveridge, Allan J., Martin, Nicholas G, Montgomery, Grant W., Hume, David A., Deary, Ian J., Visscher, Peter M., Wray, Naomi R. and McRae, Allan F. (2023). Rare genetic variants underlie outlying levels of DNA methylation and gene-expression. Human Molecular Genetics, 32 (11), 1912-1921. doi: 10.1093/hmg/ddad028 |
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2023 Journal Article Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophreniaHsu, Yu-Han H., Pintacuda, Greta, Liu, Ruize, Nacu, Eugeniu, Kim, April, Tsafou, Kalliopi, Petrossian, Natalie, Crotty, William, Suh, Jung Min, Riseman, Jackson, Martin, Jacqueline M., Biagini, Julia C., Mena, Daya, Ching, Joshua K.T., Malolepsza, Edyta, Li, Taibo, Singh, Tarjinder, Ge, Tian, Egri, Shawn B., Tanenbaum, Benjamin, Stanclift, Caroline R., Apffel, Annie M., Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T.R., Farh, Kai-How, Holmans, Peter A., Lee, Phil ... Lage, Kasper (2023). Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia. iScience, 26 (5) 106701, 1-28. doi: 10.1016/j.isci.2023.106701 |
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2023 Journal Article Interactions between the lipidome and genetic and environmental factors in autismYap, Chloe X., Henders, Anjali K., Alvares, Gail A., Giles, Corey, Huynh, Kevin, Nguyen, Anh, Wallace, Leanne, McLaren, Tiana, Yang, Yuanhao, Hernandez, Leanna M., Gandal, Michael J., Hansell, Narelle K., Cleary, Dominique, Grove, Rachel, Hafekost, Claire, Harun, Alexis, Holdsworth, Helen, Jellett, Rachel, Khan, Feroza, Lawson, Lauren P., Leslie, Jodie, Levis Frenk, Mira, Masi, Anne, Mathew, Nisha E., Muniandy, Melanie, Nothard, Michaela, Miller, Jessica L., Nunn, Lorelle, Strike, Lachlan T. ... The Busselton Health Study Investigators (2023). Interactions between the lipidome and genetic and environmental factors in autism. Nature Medicine, 29 (4), 936-949. doi: 10.1038/s41591-023-02271-1 |
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2023 Journal Article Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thicknessMakowski, Carolina, Wang, Hao, Srinivasan, Anjali, Qi, Anna, Qiu, Yuqi, van der Meer, Dennis, Frei, Oleksandr, Zou, Jingjing, Visscher, Peter M., Yang, Jian and Chen, Chi-Hua (2023). Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness. Proceedings of the National Academy of Sciences, 120 (11) e2214834120, e2214834120. doi: 10.1073/pnas.2214834120 |
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2023 Journal Article 15 years of GWAS discovery: realizing the promiseAbdellaoui, Abdel, Yengo, Loic, Verweij, Karin J. H. and Visscher, Peter M. (2023). 15 years of GWAS discovery: realizing the promise. The American Journal of Human Genetics, 110 (2), 179-194. doi: 10.1016/j.ajhg.2022.12.011 |
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2023 Journal Article Estimation and implications of the genetic architecture of fasting and non-fasting blood glucoseQiao, Zhen, Sidorenko, Julia, Revez, Joana A., Xue, Angli, Lu, Xueling, Pärna, Katri, Snieder, Harold, Visscher, Peter M., Wray, Naomi R., Yengo, Loic and Lifelines Cohort Study (2023). Estimation and implications of the genetic architecture of fasting and non-fasting blood glucose. Nature Communications, 14 (1) 451, 1-11. doi: 10.1038/s41467-023-36013-1 |
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2023 Journal Article Phenotypic and genetic factors associated with absence of cardiomyopathy symptoms in PLN:c.40_42delAGA carriersLopera-Maya, Esteban A., Li, Shuang, de Brouwer, Remco, Nolte, Ilja M., van Breen, Justin, Bosman, Laurens P., Verstraelen, Tom E., van Lint, Freya H. M., Cox, Moniek G. P. J., Groeneweg, Judith A., Mast, Thomas P., van der Zwaag, Paul A., Volders, Paul G. A., Evertz, Reinder, Wong, Lisa, de Groot, Natasja M. S., Zeppenfeld, Katja, van der Heijden, Jeroen F., van den Berg, Maarten P., Wilde, Arthur A. M., Asselbergs, Folkert W., Hauer, Richard N. W., te Riele, Anneline S. J. M., van Tintelen, J. Peter, Aguirre-Gamboa, Raul, Kuivenhoven, Jan A., Maya, Esteban A. Lopera, Visscher, Peter M., Vonk, Judith M. ... Lifelines Cohort Study (2023). Phenotypic and genetic factors associated with absence of cardiomyopathy symptoms in PLN:c.40_42delAGA carriers. Journal of Cardiovascular Translational Research, 16 (6), 1251-1266. doi: 10.1007/s12265-022-10347-5 |
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2023 Journal Article mBAT-combo: a more powerful test to detect gene-trait associations from GWAS dataLi, Ang, Liu, Shouye, Bakshi, Andrew, Jiang, Longda, Chen, Wenhan, Zheng, Zhili, Sullivan, Patrick F., Visscher, Peter M., Wray, Naomi R., Yang, Jian and Zeng, Jian (2023). mBAT-combo: a more powerful test to detect gene-trait associations from GWAS data. American Journal of Human Genetics, 110 (1), 30-43. doi: 10.1016/j.ajhg.2022.12.006 |
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2023 Journal Article Genetic and modifiable risk factors combine multiplicatively in common diseasePang, Shichao, Yengo, Loic, Nelson, Christopher P., Bourier, Felix, Zeng, Lingyao, Li, Ling, Kessler, Thorsten, Erdmann, Jeanette, Mägi, Reedik, Läll, Kristi, Metspalu, Andres, Mueller-Myhsok, Bertram, Samani, Nilesh J., Visscher, Peter M. and Schunkert, Heribert (2023). Genetic and modifiable risk factors combine multiplicatively in common disease. Clinical Research in Cardiology, 112 (2), 247-257. doi: 10.1007/s00392-022-02081-4 |
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2022 Journal Article Local CpG density affects the trajectory and variance of age-associated DNA methylation changesHigham, Jonathan, Kerr, Lyndsay, Zhang, Qian, Walker, Rosie M., Harris, Sarah E., Howard, David M., Hawkins, Emma L., Sandu, Anca-Larisa, Steele, J. Douglas, Waiter, Gordon D., Murray, Alison D., Evans, Kathryn L., McIntosh, Andrew M., Visscher, Peter M., Deary, Ian J., Cox, Simon R. and Sproul, Duncan (2022). Local CpG density affects the trajectory and variance of age-associated DNA methylation changes. Genome Biology, 23 (1) 216, 1-28. doi: 10.1186/s13059-022-02787-8 |
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2022 Journal Article Author Correction: Assortative mating biases marker-based heritability estimators (Nature Communications, (2022), 13, 1, (660), 10.1038/s41467-022-28294-9)Border, Richard, O’Rourke, Sean, de Candia, Teresa, Goddard, Michael E., Visscher, Peter M., Yengo, Loic, Jones, Matt and Keller, Matthew C. (2022). Author Correction: Assortative mating biases marker-based heritability estimators (Nature Communications, (2022), 13, 1, (660), 10.1038/s41467-022-28294-9). Nature Communications, 13 (1) 1903, 1903. doi: 10.1038/s41467-022-29652-3 |
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2022 Journal Article Development and external validation of multivariable risk models to predict incident and resolved neuropathic pain: a DOLORisk Dundee studyHebert, Harry L., Veluchamy, Abirami, Baskozos, Georgios, Fardo, Francesca, Van Ryckeghem, Dimitri, Pearson, Ewan R., Colvin, Lesley A., Crombez, Geert, Bennett, David L. H., Meng, Weihua, Palmer, Colin N. A. and Smith, Blair H. (2022). Development and external validation of multivariable risk models to predict incident and resolved neuropathic pain: a DOLORisk Dundee study. Journal of Neurology, 270 (2), 1076-1094. doi: 10.1007/s00415-022-11478-0 |
