A reference panel of 64,976 haplotypes for genotype imputation
the Haplotype Reference Consortium·2016·Nature Genetics
DOI 10.1038/ng.3643
Cited by (1,016)
Items 101–200 of 1,016
- Minimal phenotyping yields genome-wide association signals of low specificity for major depressionMDD Working Group of the Psychiatric Genomics Consortium, Cai, Na, Revez, Joana A., Adams, Mark J., Andlauer, Till F. M., Breen, Gerome, Byrne, Enda M., Clarke, Toni-Kim, Forstner, Andreas J., Grabe, Hans J. et al. · 2020 · Nature Genetics
- Common genetic variants contribute to risk of rare severe neurodevelopmental disordersNiemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui et al. · 2018 · Nature
- Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanismsCornelis Blauwendraat, Karl Heilbron, Costanza Ludovica Vallerga, Sara Bandrés‐Ciga, Rainer von Coelln, Lasse Pihlstrøm, Javier Simón‐Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn et al. · 2019 · Movement Disorders
- Cardiac Troponin T and Troponin I in the General PopulationPaul I. Welsh, David Preiss, Caroline Hayward, Anoop S.V. Shah, David McAllister, Andrew H. Briggs, Charles Boachie, Alex McConnachie, Sandosh Padmanabhan, Claire E. Welsh et al. · 2019 · Circulation
- Genome-wide association study of susceptibility to idiopathic pulmonary fibrosisAllen, Richard J., Guillen-Guio, Beatriz, Oldham, Justin M., Ma, Shwu-Fan, Dressen, Amy, Paynton, Megan L., Kraven, Luke M., Obeidat, Ma'en, Li, Xuan, Ng, Michael et al. · 2020 · American Journal of Respiratory and Critical Care Medicine
- Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participantsLoes C.A. Rutten‐Jacobs, Susanna C. Larsson, Rainer Malik, Kristiina Rannikmäe, Cathie L. M. Sudlow, Martin Dichgans, Hugh Stephen Markus, Matthew Traylor · 2018 · BMJ
- Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolomeChen, Lianmin, Zhernakova, Daria V., Kurilshikov, Alexander, Andreu-Sánchez, Sergio, Wang, Daoming, Augustijn, Hannah E., Vich Vila, Arnau, Lifelines Cohort Study, Weersma, Rinse K., Medema, Marnix H. et al. · 2022 · Nature Medicine
- A genome‐wide association study of the frailty index highlights brain pathways in ageingJanice L. Atkins, Juulia Jylhävä, Nancy L. Pedersen, Patrik K. E. Magnusson, Yi Lu, Yunzhang Wang, Sara Hägg, David R. Melzer, Dylan M. Williams, Luke C. Pilling · 2021 · Aging Cell
- Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analysesAlison R. Barton, Maxwell A. Sherman, Ronen E. Mukamel, Po‐Ru Loh · 2021 · Nature Genetics
- Common variants in Alzheimer’s disease and risk stratification by polygenic risk scoresde Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel et al. · 2021 · Nature Communications
- Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapiesMark J. Adams, Fabian Streit, Xiangrui Meng, Swapnil Awasthi, Brett N. Adey, Karmel W. Choi, V. Kartik Chundru, Jonathan R. I. Coleman, Bart Ferwerda, Jerome C. Foo et al. · 2025 · Cell
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditionsNilüfer Rahmioğlu, Sally Mortlock, Marzieh Ghiasi, Peter Loof Møller, Lilja Stefánsdóttir, Geneviève Galarneau, Constance Turman, Rebecca Danning, Matthew H. Law, Yadav Sapkota et al. · 2023 · Nature Genetics
- Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regionsSieberts, Solveig K., Perumal, Thanneer M., Carrasquillo, Minerva M., Allen, Mariet, Reddy, Joseph S., Hoffman, Gabriel E., Dang, Kristen K., Calley, John, Ebert, Philip J., Eddy, James et al. · 2020 · Scientific Data
- Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.Karlsson Linnér, Richard, Mallard, Travis T., Barr, Peter B., Sanchez-Roige, Sandra, Madole, James W., Driver, Morgan N., Poore, Holly E., de Vlaming, Ronald, Grotzinger, Andrew D., Tielbeek, Jorim J. et al. · 2021 · Nature Neuroscience
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- Interpretation of risk loci from genome-wide association studies of Alzheimer's diseaseAndrews, Shea J, Fulton-Howard, Brian, Goate, Alison · 2020 · The Lancet Neurology
- Genomics of disease risk in globally diverse populationsDeepti Gurdasani, Inês Barroso, Eleftheria Zeggini, Manjinder S. Sandhu · 2019 · Nature Reviews Genetics
- A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligenceHill, W. D., Marioni, R. E., Maghzian, O., Ritchie, S. J., Hagenaars, S. P., McIntosh, A. M., Gale, C. R., Davies, G., Deary, I. J. · 2019 · Molecular Psychiatry
- Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disordersBryois, Julien, Calini, Daniela, Macnair, Will, Foo, Lynette, Urich, Eduard, Ortmann, Ward, Iglesias, Victor Alejandro, Selvaraj, Suresh, Nutma, Erik, Marzin, Manuel et al. · 2022 · Nature Neuroscience
- Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of agingDaniel L. McCartney, Josine L. Min, Rebecca Claire Richmond, Ake Tzu-Hui Lu, Maria Sobczyk, Gail Davies, Linda Broer, Xiuqing Guo, Ayoung Jeong, Jeesun Jung et al. · 2021 · Genome biology
- A multi-ancestry polygenic risk score improves risk prediction for coronary artery diseaseAniruddh P. Patel, Minxian Wang, Yunfeng Ruan, Satoshi Koyama, Shoa L. Clarke, Xiong Yang, Catherine Tcheandjieu, Saaket Agrawal, Akl C. Fahed, Patrick T. Ellinor et al. · 2023 · Nature Medicine
- Common Disease Is More Complex Than Implied by the Core Gene Omnigenic ModelNaomi R. Wray, Cisca Wijmenga, Patrick F. Sullivan, Jian Yang, Peter M. Visscher · 2018 · Cell
- The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort studySven J. van der Lee, Frank J. Wolters, M. Kamran Ikram, Albert Hofman D, M. Arfan Ikram, Najaf Amin, Cornelia M. van Duijn · 2018 · The Lancet Neurology
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controlsBroad Genomics Platform, Flannick, Jason, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES et al. · 2019 · Nature
- The role of sex in the genomics of human complex traitsKhramtsova, Ekaterina A., Davis, Lea K., Stranger, Barbara E. · 2019 · Nature Reviews Genetics
- Discovery and prioritization of variants and genes for kidney function in >1.2 million individualsKira J. Stanzick, Yong Li, Pascal Schlosser, Mathias Gorski, Matthias Wuttke, Laurent F. Thomas, Humaira Rasheed, Bryce X. Rowan, Sarah E. Graham, Brett R. Vanderweff et al. · 2021 · Nature Communications
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and ClassificationDapas, Matthew, Dunaif, Andrea · 2022 · Endocrine Reviews
- Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association studyAllen, Richard J, Porte, Joanne, Braybrooke, Rebecca, Flores, Carlos, Fingerlin, Tasha E, Oldham, Justin M, Guillen-Guio, Beatriz, Ma, Shwu-Fan, Okamoto, Tsukasa, John, Alison E et al. · 2017 · The Lancet Respiratory Medicine
- Comparing Within- and Between-Family Polygenic Score PredictionSelzam, Saskia, Ritchie, Stuart J., Pingault, Jean-Baptiste, Reynolds, Chandra A., O’Reilly, Paul F., Plomin, Robert · 2019 · The American Journal of Human Genetics
- Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severityJanie F. Shelton, Anjali J. Shastri, Chelsea Ye, Catherine H. Weldon, Teresa Filshtein-Sonmez, Daniella Coker, Antony Symons, Jorge Esparza-Gordillo, The 23andMe COVID-19 Team, Adrian Chubb et al. · 2021 · Nature Genetics
- Effects of urban living environments on mental health in adultsJiayuan Xu, Nana Liu, Elli Polemiti, Liliana Garcia-Mondragon, Jie Tang, Xiaoxuan Liu, Tristram A. P. Lett, Le Yu, Markus Maria Nöthen, Jianfeng Feng et al. · 2023 · Nature Medicine
- Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesityAkbari, Parsa, Gilani, Ankit, Sosina, Olukayode, Kosmicki, Jack A., Khrimian, Lori, Fang, Yi-Ya, Persaud, Trikaldarshi, Garcia, Victor, Sun, Dylan, Li, Alexander et al. · 2021 · Science
- Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populationsMadeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy L. Avery et al. · 2019 · PLoS Genetics
- Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseasesde Klein, Niek, Tsai, Ellen A., Vochteloo, Martijn, Baird, Denis, Huang, Yunfeng, Chen, Chia-Yen, van Dam, Sipko, Oelen, Roy, Deelen, Patrick, Bakker, Olivier B. et al. · 2023 · Nature Genetics
- GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortiumTrampush, J W, Yang, M L Z, Yu, J, Knowles, E, Davies, G, Liewald, D C, Starr, J M, Djurovic, S, Melle, I, Sundet, K et al. · 2017 · Molecular Psychiatry
- Rapid genotype imputation from sequence without reference panelsR. W. Davies, Jonathan Flint, Simon Myers, Richard Mott · 2016 · Nature Genetics
- Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populationsWang, Ying, Guo, Jing, Ni, Guiyan, Yang, Jian, Visscher, Peter M., Yengo, Loic · 2020 · Nature Communications
- Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association studyGuerreiro, Rita, Ross, Owen A, Kun-Rodrigues, Celia, Hernandez, Dena G, Orme, Tatiana, Eicher, John D, Shepherd, Claire E, Parkkinen, Laura, Darwent, Lee, Heckman, Michael G et al. · 2018 · The Lancet Neurology
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- Genetic architecture of subcortical brain structures in 38,851 individualsClaudia Liliana Satizábal, Hieab H.H. Adams, Derrek P. Hibar, Charles C. White, Maria J. Knol, Jason L. Stein, Markus R. Scholz, Muralidharan Sargurupremraj, Neda Jahanshad, Gennady V. Roshchupkin et al. · 2019 · Nature Genetics
- Genetic correlates of social stratification in Great BritainAbdellaoui, Abdel, Hugh-Jones, David, Yengo, Loic, Kemper, Kathryn E., Nivard, Michel G., Veul, Laura, Holtz, Yan, Zietsch, Brendan P., Frayling, Timothy M., Wray, Naomi R. et al. · 2019 · Nature Human Behaviour
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- Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in AfricaDeepti Gurdasani, Tommy Carstensen, Segun Fatumo, Guanjie Chen, Chris S. Franklin, Javier Prado-Martinez, Heleen J. Bouman, Federico Abascal, Marc Haber, Ioanna Tachmazidou et al. · 2019 · Cell
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulationBis, Joshua C., Jian, Xueqiu, Kunkle, Brian W., Chen, Yuning, Hamilton-Nelson, Kara L., Bush, William S., Salerno, William J., Lancour, Daniel, Ma, Yiyi, Renton, Alan E. et al. · 2020 · Molecular Psychiatry
- Improving the odds of drug development success through human genomics: modelling studyAroon Dinesh Hingorani, Valerie Kuan, Chris Finan, Felix Alexander Krüger, Anna Gaulton, Sandesh Chopade, Reecha Sofat, Raymond J. MacAllister, John P. Overington, Harry Hemingway et al. · 2019 · Scientific Reports
- Genome-wide associations of human gut microbiome variation and implications for causal inference analysesDavid A. Hughes, Rodrigo Bacigalupe, Jun Wang, Malte Christoph Rühlemann, Raul Yhossef Tito, Gwen Falony, Marie Joossens, Sara Vieira‐Silva, Liesbet Henckaerts, Leen Rymenans et al. · 2020 · Nature Microbiology
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- Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in SingaporeDegang Wu, Jinzhuang Dou, Xiaoran Chai, Claire Bellis, Andreas Wilm, Chih Chuan Shih, Wendy WeiJia Soon, Nicolas Bertin, Clarabelle Bitong Lin, Chiea Chuen Khor et al. · 2019 · Cell
- Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathwaysKyoko Watanabe, Philip R. Jansen, Jeanne E. Savage, Priyanka Nandakumar, Xin Wang, Michelle Agee, Stella W. Aslibekyan, Adam Auton, Robert K. Bell, Katarzyna Bryc et al. · 2022 · Nature Genetics
- Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traitsHaplotype Reference Consortium, Evans, Luke M., Tahmasbi, Rasool, Vrieze, Scott I., Abecasis, Gonçalo R., Das, Sayantan, Gazal, Steven, Bjelland, Douglas W., de Candia, Teresa R., Goddard, Michael E. et al. · 2018 · Nature Genetics
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- Genotype Imputation from Large Reference PanelsSayantan Das, Gonçalo R. Abecasis, Brian L. Browning · 2018 · Annual Review of Genomics and Human Genetics
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- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohortsWei Zhou, Zhangchen Zhao, Jonas Bille Nielsen, Lars G. Fritsche, Jonathon LeFaive, Sarah A. Gagliano Taliun, Wenjian Bi, Maiken Elvestad Gabrielsen, Mark J. Daly, Benjamin M. Neale et al. · 2020 · Nature Genetics
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- Modified penetrance of coding variants by cis-regulatory variation contributes to disease riskCastel, Stephane E., Cervera, Alejandra, Mohammadi, Pejman, Aguet, François, Reverter, Ferran, Wolman, Aaron, Guigo, Roderic, Iossifov, Ivan, Vasileva, Ana, Lappalainen, Tuuli · 2018 · Nature Genetics
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- Genetics of Alzheimer’s disease: where we are, and where we are goingBellenguez, Céline, Grenier-Boley, Benjamin, Lambert, Jean-Charles · 2020 · Current Opinion in Neurobiology
- Recovery of trait heritability from whole genome sequence dataWainschtein, Pierrick, Jain, Deepti, Zheng, Zhili, TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, L. Adrienne, Shadyab, Aladdin H., McKnight, Barbara, Shoemaker, Benjamin M., Mitchell, Braxton D. et al. · 2019
- Association of asthma and its genetic predisposition with the risk of severe COVID-19Zhaozhong Zhu, Kohei Hasegawa, Baoshan Ma, Michimasa Fujiogi, Carlos A. Camargo, Liming Liang · 2020 · Journal of Allergy and Clinical Immunology
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- Monogenic and polygenic inheritance become instruments for clonal selectionPo‐Ru Loh, Giulio Genovese, Steven A. McCarroll · 2020 · Nature
- Genetic variants in mRNA untranslated regionsMaristella Steri, Maria Laura Idda, Michael Bernard Whalen, Valeria Orrù · 2018 · Wiley Interdisciplinary Reviews - RNA
- GWAS of epigenetic aging rates in blood reveals a critical role for TERTAke Tzu-Hui Lu, Luting Xue, Elias Salfati, Brian H. Chen, Luigi Ferrucci, Daniel A Levy, Roby Joehanes, Joanne M. Murabito, Douglas P. Kiel, Pei-Chien Tsai et al. · 2018 · Nature Communications
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- Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK BiobankJonathan R. I. Coleman, Wouter J. Peyrot, Kirstin Lee Purves, Katrina A. S. Davis, Christopher Rayner, Shing Wan Choi, Christopher Hübel, Héléna A. Gaspar, Carol Kan, Sandra Van der Auwera et al. · 2020 · Molecular Psychiatry
- Haplotype estimation for biobank-scale data setsJared O’Connell, Kevin Sharp, Nick R. G. Shrine, Louise V. Wain, Ian P. Hall, Martin D. Tobin, Jean‐François Zagury, Olivier Delaneau, Jonathan Marchini · 2016 · Nature Genetics
- Genotype imputation using the Positional Burrows Wheeler TransformSimone Rubinacci, Olivier Delaneau, Jonathan Marchini · 2020 · PLoS Genetics
- Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian womenValgerður Steinthórsdóttir, Ralph E. McGinnis, Nicholas Williams, Lilja Stefánsdóttir, Guðmar Þorleifsson, Scott Shooter, João Fadista, Jon Karl Sigurdsson, Kirsi M. Auro, Galina Berezina et al. · 2020 · Nature Communications
- Psoriasis and GeneticsNick Dand, Satveer K. Mahil, Francesca Capon, Catherine H. Smith, Michael A. Simpson, Juliet N. Barker · 2020 · Acta Dermato Venereologica
- Longitudinal plasma metabolomics of aging and sexBurcu F. Darst, Rebecca L. Koscik, Kirk J. Hogan, Sterling C. Johnson, Corinne D. Engelman · 2019 · Aging
- VarCards: an integrated genetic and clinical database for coding variants in the human genomeJinchen Li, Leisheng Shi, Kun Zhang, Yi Zhang, Shanshan Hu, Tingting Zhao, Huajing Teng, Xianfeng Li, Yi Wei Jiang, Liying Ji et al. · 2017 · Nucleic Acids Research
- Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccinesPetar Šćepanović, Cécile Alanio, Christian Hammer, Flavia Hodel, Jacob Bergstedt, Étienne Patin, Christian Wandall Thorball, Nimisha Chaturvedi, Bruno Charbit, Laurent Abel et al. · 2018 · Genome Medicine
- Multi-polygenic score approach to trait predictionEva M. L. Krapohl, Hamel Patel, Stephen Newhouse, Charles J. C. Curtis, Sophie von Stumm, Philip S. Dale, Delilah Zabaneh, Gerome D. Breen, Paul F. O’Reilly, Robert J. Plomin · 2017 · Molecular Psychiatry
- Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK BiobankHuanwei Wang, Futao Zhang, Jian Zeng, Yang Wu, Kathryn E. Kemper, Angli Xue, Min Zhang, Joseph E. Powell, Michael Edward Goddard, Naomi R. Wray et al. · 2019 · Science Advances
- Cumulative Burden of Colorectal Cancer–Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset CancerAlexi N. Archambault, Yu‐Ru Su, Jihyoun Jeon, Minta Thomas, Yi Lin, David V. Conti, Aung Ko Win, Lori C. Sakoda, Iris Lansdorp‐Vogelaar, Elisabeth F.P. Peterse et al. · 2019 · Gastroenterology
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