Partitioning heritability by functional annotation using genome-wide association summary statistics

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Items 101–167 of 167

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12. Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits
    Freund, Malika Kumar, Burch, Kathryn S., Shi, Huwenbo, Mancuso, Nicholas, Kichaev, Gleb, Garske, Kristina M., Pan, David Z., Miao, Zong, Mohlke, Karen L., Laakso, Markku et al. · 2018 · The American Journal of Human Genetics
13. Genetic risk for Alzheimer’s disease is concentrated in specific macrophage and microglial transcriptional networks
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14. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism
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15. Shared genetic background between children and adults with attention deficit/hyperactivity disorder
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16. Scalable genetic screening for regulatory circuits using compressed Perturb-seq
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17. Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders
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18. Genome‐wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry
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    Wu, Yang, Zheng, Zhili, Visscher, Peter M., Yang, Jian · 2017 · Genome biology
20. Social and non-social autism symptoms and trait domains are genetically dissociable
    Warrier, Varun, Toro, Roberto, Won, Hyejung, Leblond, Claire S., Cliquet, Freddy, Delorme, Richard, De Witte, Ward, Bralten, Janita, Chakrabarti, Bhismadev, Børglum, Anders D. et al. · 2019 · Communications Biology
21. Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease
    Lu, Qiongshi, Powles, Ryan L., Abdallah, Sarah, Ou, Derek, Wang, Qian, Hu, Yiming, Lu, Yisi, Liu, Wei, Li, Boyang, Mukherjee, Shubhabrata et al. · 2017 · PLOS Genetics
22. Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci
    Liu, Boxiang, Pjanic, Milos, Wang, Ting, Nguyen, Trieu, Gloudemans, Michael, Rao, Abhiram, Castano, Victor G., Nurnberg, Sylvia, Rader, Daniel J., Elwyn, Susannah et al. · 2018 · The American Journal of Human Genetics
23. The distribution of common-variant effect sizes
    O’Connor, Luke J. · 2021 · Nature Genetics
24. Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture
    Hou, Kangcheng, Burch, Kathryn S., Majumdar, Arunabha, Shi, Huwenbo, Mancuso, Nicholas, Wu, Yue, Sankararaman, Sriram, Pasaniuc, Bogdan · 2019 · Nature Genetics
25. GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits
    Huang, Dandan, Yi, Xianfu, Zhang, Shijie, Zheng, Zhanye, Wang, Panwen, Xuan, Chenghao, Sham, Pak Chung, Wang, Junwen, Li, Mulin Jun · 2018 · Nucleic Acids Research
26. Genetic Association Analyses Highlight <i>IL6</i> , <i>ALPL</i> , and <i>NAV1</i> As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis
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29. GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
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30. Genomics implicates adaptive and innate immunity in Alzheimer’s and Parkinson’s diseases
    Gagliano, Sarah A., Pouget, Jennie G., Hardy, John, Knight, Jo, Barnes, Michael R., Ryten, Mina, Weale, Michael E. · 2016 · Annals of Clinical and Translational Neurology
31. Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
    McArthur, Evonne, Rinker, David C., Capra, John A. · 2021 · Nature Communications
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    Stein, Murray B., Chen, Chia‐Yen, Jain, Sonia, Jensen, Kevin P., He, Feng, Heeringa, Steven G., Kessler, Ronald C., Maihofer, Adam, Nock, Matthew K., Ripke, Stephan et al. · 2017 · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
34. Functional characterization of Alzheimer’s disease genetic variants in microglia
    Yang, Xiaoyu, Wen, Jia, Yang, Han, Jones, Ian R., Zhu, Xiaodong, Liu, Weifang, Li, Bingkun, Clelland, Claire D., Luo, Wenjie, Wong, Man Ying et al. · 2023 · Nature Genetics
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36. The three-dimensional landscape of cortical chromatin accessibility in Alzheimer’s disease
    Bendl, Jaroslav, Hauberg, Mads E., Girdhar, Kiran, Im, Eunju, Vicari, James M., Rahman, Samir, Fernando, Michael B., Townsley, Kayla G., Dong, Pengfei, Misir, Ruth et al. · 2022 · Nature Neuroscience
37. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
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    Abdellaoui, Abdel, Smit, Dirk J.A., van den Brink, Wim, Denys, Damiaan, Verweij, Karin J.H. · 2021 · Drug and Alcohol Dependence
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    Zhao, Bingxin, Ibrahim, Joseph G, Li, Yun, Li, Tengfei, Wang, Yue, Shan, Yue, Zhu, Ziliang, Zhou, Fan, Zhang, Jingwen, Huang, Chao et al. · 2019 · Cerebral Cortex
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    Pazokitoroudi, Ali, Wu, Yue, Burch, Kathryn S., Hou, Kangcheng, Zhou, Aaron, Pasaniuc, Bogdan, Sankararaman, Sriram · 2020 · Nature Communications
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    Kim, Samuel S., Truong, Buu, Jagadeesh, Karthik, Dey, Kushal K., Shen, Amber Z., Raychaudhuri, Soumya, Kellis, Manolis, Price, Alkes L. · 2024 · Nature Communications
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    Mah, Won, Won, Hyejung · 2020 · Schizophrenia Research
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    Koller, Dora, Wendt, Frank R., Pathak, Gita A., De Lillo, Antonella, De Angelis, Flavio, Cabrera-Mendoza, Brenda, Tucci, Serena, Polimanti, Renato · 2022 · BMC Biology
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58. Enrichment of schizophrenia heritability in both neuronal and glia cell regulatory elements
    Tansey, Katherine E., Hill, Matthew J. · 2018 · Translational Psychiatry
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