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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype
Stanaway, Ian B., Hall, Taryn O., Rosenthal, Elisabeth A., Palmer, Melody, Naranbhai, Vivek, Knevel, Rachel, Namjou‐Khales, Bahram, Carroll, Robert J., Kiryluk, Krzysztof, Gordon, Adam S., Linder, Jodell, Howell, Kayla Marie, Mapes, Brandy M., Lin, Frederick T.J., Joo, Yoonjung Yoonie, Hayes, M. Geoffrey, Gharavi, Ali G., Pendergrass, Sarah A., Ritchie, Marylyn D., Andrade, Mariza, Croteau‐Chonka, Damien C., Raychaudhuri, Soumya, Weiss, Scott T., Lebo, Matt, Amr, Sami S., Carrell, David, Larson, Eric B., Chute, Christopher G., Rasmussen‐Torvik, Laura Jarmila, Roy‐Puckelwartz, Megan J., Sleiman, Patrick, Hakonarson, Hakon, Li, Rongling, Karlson, Elizabeth W., Peterson, Josh F., Kullo, Iftikhar J., Chisholm, Rex, Denny, Joshua Charles, Jarvik, Gail P., Crosslin, David R.
Published in Genetic epidemiology (01.02.2019)
Published in Genetic epidemiology (01.02.2019)
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The sequences of 150,119 genomes in the UK Biobank
Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, Stefansson, Kari
Published in Nature (London) (28.07.2022)
Published in Nature (London) (28.07.2022)
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Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project
Chen, Chien-Hsiun, Yang, Jenn-Hwai, Chiang, Charleston W.K., Hsiung, Chia-Ni, Wu, Pei-Ei, Chang, Li-Ching, Chu, Hou-Wei, Chang, Josh, Song, I-Wen, Yang, Show-Ling, Chen, Yuan-Tsong, Liu, Fu-Tong, Shen, Chen-Yang
Published in Human molecular genetics (15.12.2016)
Published in Human molecular genetics (15.12.2016)
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An integrated map of structural variation in 2,504 human genomes
Sudmant, Peter H., Rausch, Tobias, Gardner, Eugene J., Handsaker, Robert E., Abyzov, Alexej, Huddleston, John, Zhang, Yan, Ye, Kai, Jun, Goo, Hsi-Yang Fritz, Markus, Konkel, Miriam K., Malhotra, Ankit, Stütz, Adrian M., Shi, Xinghua, Paolo Casale, Francesco, Chen, Jieming, Hormozdiari, Fereydoun, Dayama, Gargi, Chen, Ken, Malig, Maika, Chaisson, Mark J. P., Walter, Klaudia, Meiers, Sascha, Kashin, Seva, Garrison, Erik, Auton, Adam, Lam, Hugo Y. K., Jasmine Mu, Xinmeng, Alkan, Can, Antaki, Danny, Bae, Taejeong, Cerveira, Eliza, Chines, Peter, Chong, Zechen, Clarke, Laura, Dal, Elif, Ding, Li, Emery, Sarah, Fan, Xian, Gujral, Madhusudan, Kahveci, Fatma, Kidd, Jeffrey M., Kong, Yu, Lameijer, Eric-Wubbo, McCarthy, Shane, Flicek, Paul, Gibbs, Richard A., Marth, Gabor, Mason, Christopher E., Menelaou, Androniki, Muzny, Donna M., Nelson, Bradley J., Noor, Amina, Parrish, Nicholas F., Pendleton, Matthew, Quitadamo, Andrew, Raeder, Benjamin, Schadt, Eric E., Romanovitch, Mallory, Schlattl, Andreas, Sebra, Robert, Shabalin, Andrey A., Untergasser, Andreas, Walker, Jerilyn A., Wang, Min, Yu, Fuli, Zhang, Chengsheng, Zhang, Jing, Zheng-Bradley, Xiangqun, Zhou, Wanding, Zichner, Thomas, Sebat, Jonathan, Batzer, Mark A., McCarroll, Steven A., Mills, Ryan E., Gerstein, Mark B., Bashir, Ali, Stegle, Oliver, Devine, Scott E., Lee, Charles, Eichler, Evan E., Korbel, Jan O.
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome
Cassidy, Lara M., Martiniano, Rui, Murphy, Eileen M., Teasdale, Matthew D., Mallory, James, Hartwell, Barrie, Bradley, Daniel G.
Published in Proceedings of the National Academy of Sciences - PNAS (12.01.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (12.01.2016)
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The genetic structure of the Turkish population reveals high levels of variation and admixture
Kars, M. Ece, Başak, A. Nazlı, Onat, O. Emre, Bilguvar, Kaya, Choi, Jungmin, Itan, Yuval, Çağlar, Caner, Palvadeau, Robin, Casanova, Jean-Laurent, Cooper, David N., Stenson, Peter D., Yavuz, Alper, Buluş, Hakan, Günel, Murat, Friedman, Jeffrey M., Özçelik, Tayfun
Published in Proceedings of the National Academy of Sciences - PNAS (07.09.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (07.09.2021)
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Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
Dai, Yi, Li, Pidong, Wang, Zhiqiang, Liang, Fan, Yang, Fan, Fang, Li, Huang, Yu, Huang, Shangzhi, Zhou, Jiapeng, Wang, Depeng, Cui, Liying, Wang, Kai
Published in Journal of medical genetics (01.02.2020)
Published in Journal of medical genetics (01.02.2020)
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A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
de Bakker, Paul I W, McVean, Gil, Sabeti, Pardis C, Miretti, Marcos M, Green, Todd, Marchini, Jonathan, Ke, Xiayi, Monsuur, Alienke J, Whittaker, Pamela, Delgado, Marcos, Morrison, Jonathan, Richardson, Angela, Walsh, Emily C, Gao, Xiaojiang, Galver, Luana, Hart, John, Hafler, David A, Pericak-Vance, Margaret, Todd, John A, Daly, Mark J, Trowsdale, John, Wijmenga, Cisca, Vyse, Tim J, Beck, Stephan, Murray, Sarah Shaw, Carrington, Mary, Gregory, Simon, Deloukas, Panos, Rioux, John D
Published in Nature genetics (01.10.2006)
Published in Nature genetics (01.10.2006)
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The genome of a Late Pleistocene human from a Clovis burial site in western Montana
Rasmussen, Morten, Anzick, Sarah L., Waters, Michael R., Skoglund, Pontus, DeGiorgio, Michael, Stafford, Thomas W., Rasmussen, Simon, Moltke, Ida, Albrechtsen, Anders, Doyle, Shane M., Poznik, G. David, Gudmundsdottir, Valborg, Yadav, Rachita, Malaspinas, Anna-Sapfo, V, Samuel Stockton White, Allentoft, Morten E., Cornejo, Omar E., Tambets, Kristiina, Eriksson, Anders, Heintzman, Peter D., Karmin, Monika, Korneliussen, Thorfinn Sand, Meltzer, David J., Pierre, Tracey L., Stenderup, Jesper, Saag, Lauri, Warmuth, Vera M., Lopes, Margarida C., Malhi, Ripan S., Brunak, Søren, Sicheritz-Ponten, Thomas, Barnes, Ian, Collins, Matthew, Orlando, Ludovic, Balloux, Francois, Manica, Andrea, Gupta, Ramneek, Metspalu, Mait, Bustamante, Carlos D., Jakobsson, Mattias, Nielsen, Rasmus, Willerslev, Eske
Published in Nature (London) (13.02.2014)
Published in Nature (London) (13.02.2014)
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Functional MIF promoter haplotypes modulate Th17-related cytokine expression in peripheral blood mononuclear cells from control subjects and rheumatoid arthritis patients
Hernández-Palma, Luis Alexis, García-Arellano, Samuel, Bucala, Richard, Llamas-Covarrubias, Mara Anaís, De la Cruz-Mosso, Ulises, Oregon-Romero, Edith, Cerpa-Cruz, Sergio, Parra-Rojas, Isela, Plascencia-Hernández, Arturo, Muñoz-Valle, José Francisco
Published in Cytokine (Philadelphia, Pa.) (01.03.2019)
Published in Cytokine (Philadelphia, Pa.) (01.03.2019)
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Significant association of mu-opioid receptor 1 haplotype with tobacco smoking in healthy control subjects but not in patients with schizophrenia and alcohol dependence
Konjevod, Marcela, Nikolac Perkovic, Matea, Svob Strac, Dubravka, Uzun, Suzana, Nedic Erjavec, Gordana, Kozumplik, Oliver, Tudor, Lucija, Mimica, Ninoslav, Hirasawa-Fujita, Mika, Domino, Edward F, Pivac, Nela
Published in Psychiatry research (01.09.2020)
Published in Psychiatry research (01.09.2020)
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Associations of nicotidamide-N-methyltransferase, FTO, and IRX3 genetic variants with body mass index and resting energy expenditure in Mexican subjects
Bañales-Luna, Maciel, Figueroa-Vega, Nicté, Marín-Aragón, Carolina Ivet, Perez-Luque, Elva, Ibarra-Reynoso, Lorena, Gallardo-Blanco, Hugo L., López-Aguilar, Itzel, Malacara, Juan Manuel
Published in Scientific reports (10.07.2020)
Published in Scientific reports (10.07.2020)
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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
Kingsmore, Stephen F., Wright, Meredith, Smith, Laurie D., Liang, Yupu, Mowrey, William R., Protopsaltis, Liana, Bainbridge, Matthew, Baker, Mei, Batalov, Sergey, Blincow, Eric, Cao, Bryant, Caylor, Sara, Chambers, Christina, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Hugh, Madhavrao, Lakshminarasimha, Lefebvre, Sebastien, Leipzig, Jeremy, Mardach, Rebecca, Moore, Barry, Oh, Danny, Olsen, Lauren, Ontiveros, Eric, Owen, Mallory J., Reimers, Rebecca, Scharer, Gunter, Schleit, Jennifer, Shelnutt, Seth, Mehtalia, Shyamal S., Oriol, Albert, Sanford, Erica, Schwartz, Steve, Wigby, Kristen, Willis, Mary J., Yandell, Mark, Kunard, Chris M., Defay, Thomas
Published in American journal of human genetics (05.12.2024)
Published in American journal of human genetics (05.12.2024)
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Interindividual Variability in Hepatic Organic Anion-Transporting Polypeptides and P-Glycoprotein (ABCB1) Protein Expression: Quantification by Liquid Chromatography Tandem Mass Spectroscopy and Influence of Genotype, Age, and Sex
Prasad, Bhagwat, Evers, Raymond, Gupta, Anshul, Hop, Cornelis E. C. A, Salphati, Laurent, Shukla, Suneet, Ambudkar, Suresh V, Unadkat, Jashvant D
Published in Drug metabolism and disposition (01.01.2014)
Published in Drug metabolism and disposition (01.01.2014)
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Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region
Skibola, Christine F., Berndt, Sonja I., Vijai, Joseph, Conde, Lucia, Wang, Zhaoming, Yeager, Meredith, de Bakker, Paul I.W., Birmann, Brenda M., Vajdic, Claire M., Foo, Jia-Nee, Bracci, Paige M., Vermeulen, Roel C.H., Slager, Susan L., de Sanjose, Silvia, Linet, Martha S., Salles, Gilles, Lan, Qing, Severi, Gianluca, Hjalgrim, Henrik, Lightfoot, Tracy, Melbye, Mads, Gu, Jian, Ghesquières, Hervé, Link, Brian K., Morton, Lindsay M., Holly, Elizabeth A., Smith, Alex, Tinker, Lesley F., Teras, Lauren R., Kricker, Anne, Becker, Nikolaus, Zhang, Yawei, Giles, Graham G., Vineis, Paolo, Monnereau, Alain, Bertrand, Kimberly A., Albanes, Demetrius, Zeleniuch-Jacquotte, Anne, Gabbas, Attilio, Chung, Charles C., Burdett, Laurie, Hutchinson, Amy, Lawrence, Charles, Montalvan, Rebecca, Liang, Liming, Huang, Jinyan, Ma, Baoshan, Liu, Jianjun, Adami, Hans-Olov, Glimelius, Bengt, Ye, Yuanqing, Nowakowski, Grzegorz S., Thompson, Carrie A., Habermann, Thomas M., Novak, Anne J., Liebow, Mark, Witzig, Thomas E., Weiner, George J., Schenk, Maryjean, Hartge, Patricia, De Roos, Anneclaire J., Cozen, Wendy, Zhi, Degui, Akers, Nicholas K., Riby, Jacques, Smith, Martyn T., Lacher, Mortimer, Roman, Eve, Kane, Eleanor, Jackson, Rebecca D., North, Kari E., Diver, W. Ryan, Turner, Jenny, Armstrong, Bruce K., Benavente, Yolanda, Boffetta, Paolo, Foretova, Lenka, Maynadie, Marc, Staines, Anthony, McKay, James, Zheng, Tongzhang, Holford, Theodore R., Chamosa, Saioa, Kaaks, Rudolph, Kelly, Rachel S., Ohlsson, Bodil, Travis, Ruth C., Weiderpass, Elisabete, Clavel, Jacqueline, Giovannucci, Edward, Kraft, Peter, Mazza, Patrizio, Cocco, Pierluigi, Chiu, Brian C.H., Fraumeni, Joseph F., Offit, Kenneth, Wu, Xifeng, Cerhan, James R., Smedby, Karin E., Chanock, Stephen J.
Published in American journal of human genetics (02.10.2014)
Published in American journal of human genetics (02.10.2014)
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Human-specific evolution of killer cell immunoglobulin-like receptor recognition of major histocompatibility complex class I molecules
Parham, Peter, Norman, Paul J., Abi-Rached, Laurent, Guethlein, Lisbeth A.
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (19.03.2012)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (19.03.2012)
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The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity
Dinh, Jean C, Boone, Erin C, Staggs, Vincent S, Pearce, Robin E, Wang, Wendy Y, Gaedigk, Roger, Leeder, James Steven, Gaedigk, Andrea
Published in Clinical pharmacology and therapeutics (01.03.2022)
Published in Clinical pharmacology and therapeutics (01.03.2022)
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High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease
Tinto, Nadia, Cola, Arturo, Piscopo, Chiara, Capuano, Marina, Galatola, Martina, Greco, Luigi, Sacchetti, Lucia
Published in PloS one (23.09.2015)
Published in PloS one (23.09.2015)
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Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks
Pelikan, Richard C., Kelly, Jennifer A., Fu, Yao, Lareau, Caleb A., Tessneer, Kandice L., Wiley, Graham B., Wiley, Mandi M., Glenn, Stuart B., Harley, John B., Guthridge, Joel M., James, Judith A., Aryee, Martin J., Montgomery, Courtney, Gaffney, Patrick M.
Published in Nature communications (25.07.2018)
Published in Nature communications (25.07.2018)
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