Dali server update von Holm, Liisa, Laakso, Laura M

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes von Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.

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A structural variation reference for medical and population genetics von Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

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Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits von Civelek, Mete, Wu, Ying, Pan, Calvin, Raulerson, Chelsea K., Ko, Arthur, He, Aiqing, Tilford, Charles, Saleem, Niyas K., Stančáková, Alena, Scott, Laura J., Fuchsberger, Christian, Stringham, Heather M., Jackson, Anne U., Narisu, Narisu, Chines, Peter S., Small, Kerrin S., Kuusisto, Johanna, Parks, Brian W., Pajukanta, Päivi, Kirchgessner, Todd, Collins, Francis S., Gargalovic, Peter S., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Lusis, Aldons J.

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Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion von Huyghe, Jeroen R, Jackson, Anne U, Fogarty, Marie P, Buchkovich, Martin L, Stančáková, Alena, Stringham, Heather M, Sim, Xueling, Yang, Lingyao, Fuchsberger, Christian, Cederberg, Henna, Chines, Peter S, Teslovich, Tanya M, Romm, Jane M, Ling, Hua, McMullen, Ivy, Ingersoll, Roxann, Pugh, Elizabeth W, Doheny, Kimberly F, Neale, Benjamin M, Daly, Mark J, Kuusisto, Johanna, Scott, Laura J, Kang, Hyun Min, Collins, Francis S, Abecasis, Gonçalo R, Watanabe, Richard M, Boehnke, Michael, Laakso, Markku, Mohlke, Karen L

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A genomic mutational constraint map using variation in 76,156 human genomes von Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O’Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J.

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Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci von Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U., VandeHaar, Peter, Locke, Adam E., Fuchsberger, Christian, Stringham, Heather M., Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K., Zhang, Daiwei, Hector, Emily C., Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Wagner, Gregory R., Kang, Jian, Morrison, Jean, Burant, Charles F., Collins, Francis S., Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Mohlke, Karen L., Scott, Laura J., Wen, Xiaoquan, Fauman, Eric B., Laakso, Markku, Boehnke, Michael

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Evaluating drug targets through human loss-of-function genetic variation von Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.

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The effect of LRRK2 loss-of-function variants in humans von Whiffin, Nicola, Armean, Irina M., Kleinman, Aaron, Marshall, Jamie L., Minikel, Eric V., Goodrich, Julia K., Quaife, Nicholas M., Cole, Joanne B., Wang, Qingbo, Karczewski, Konrad J., Cummings, Beryl B., Francioli, Laurent, Laricchia, Kristen, Guan, Anna, Alipanahi, Babak, Morrison, Peter, Baptista, Marco A. S., Merchant, Kalpana M., Ware, James S., Havulinna, Aki S., Iliadou, Bozenna, Lee, Jung-Jin, Nadkarni, Girish N., Whiteman, Cole, Daly, Mark, Esko, Tõnu, Hultman, Christina, Loos, Ruth J. F., Milani, Lili, Palotie, Aarno, Pato, Carlos, Pato, Michele, Saleheen, Danish, Sullivan, Patrick F., Alföldi, Jessica, Cannon, Paul, MacArthur, Daniel G.

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Effects of a Digital Care Pathway for Multiple Sclerosis: Observational Study von Vesinurm, Märt, Maunula, Anna, Olli, Päivi, Lillrank, Paul, Ijäs, Petra, Torkki, Paulus, Mäkitie, Laura, Laakso, Sini M

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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals von Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.

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Effects of Laccase and Xylanase on the Chemical and Rheological Properties of Oat and Wheat Doughs von Flander, Laura, Rouau, Xavier, Morel, Marie-Hélène, Autio, Karin, Seppänen-Laakso, Tuulikki, Kruus, Kristiina, Buchert, Johanna

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Quantifying prion disease penetrance using large population control cohorts von Minikel, EV, Vallabh, SM, Lek, M, Estrada, K, Samocha, KE, Sathirapongsasuti, JF, McLean, CY, Tung, JY, Yu, LPC, Gambetti, P

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Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability von Lagou, Vasiliki, Mägi, Reedik, Grallert, Harald, Jansen, Rick, Dimas, Antigone S., Ulrich, Anna, Zudina, Liudmila, Gådin, Jesper R., Faggian, Alessia, Tanaka, Toshiko, Webster, Rebecca J., Saxena, Richa, Salo, Perttu, Shin, So-Youn, Amin, Najaf, Li, Guo, Verweij, Niek, Johnson, Paul C. D., Johnson, Toby, Rasmussen-Torvik, Laura J., Esko, Tõnu, Fall, Tove, Fraser, Ross M., Kanoni, Stavroula, Giedraitis, Vilmantas, Kleber, Marcus E., Sanna, Serena, Boettcher, Yvonne, Rayner, N. William, Nolte, Ilja M., Iperen, Erik van, Kovacs, Peter, Campbell, Susan, Polasek, Ozren, Egan, Josephine, Kiess, Wieland, Willemsen, Gonneke, Kuusisto, Johanna, Laakso, Markku, Thorand, Barbara, Miljkovic, Iva, Lind, Lars, Doney, Alex, Perola, Markus, Kivimaki, Mika, Kumari, Meena, Bennett, Amanda J., Groves, Christopher J., Koistinen, Heikki A., Bakker, Stephan J. L., Uusitupa, Matti, Palmer, Colin N. A., Pouta, Anneli, Krus, Ulrika, de Geus, Eco J. C. N., Wolffenbuttel, Bruce H. R., Abecasis, Goncalo R., Wright, Alan F., Dedoussis, George V., Schwarz, Peter E. H., Winkelmann, Bernhard R., Boehm, Bernhard O., März, Winfried, Metspalu, Andres, Price, Jackie F., Keinanen-Kiukaanniemi, Sirkka M., Saaristo, Timo E., Bergman, Richard N., Tuomilehto, Jaakko, Langenberg, Claudia, Vitart, Veronique, Visvikis-Siest, Sophie, Altshuler, David, Illig, Thomas, Ferrucci, Luigi, Pramstaller, Peter P., Peyser, Patricia A., Palmer, Lyle J., Penninx, Brenda W., Harst, Pim van der, Forouhi, Nita G., Loos, Ruth J. F., Boomsma, Dorret I., Hofman, Albert, Munroe, Patricia B., Gudnason, Vilmundur, Stefansson, Kari, Hamsten, Anders, Nicholson, George, Dermitzakis, Emmanouil T., Lindgren, Cecilia M., Froguel, Philippe, Kaakinen, Marika A., Lyssenko, Valeriya, Watanabe, Richard M., Ingelsson, Erik, Florez, Jose C., Barroso, Inês, Morris, Andrew P., Prokopenko, Inga

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Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci von Liu, Mengzhen, Jackson, Victoria E., Melbourne, Carl A., Young, Robin, Batini, Chiara, Afaq, Saima, Agrawal, Arpana, Antoniou, Antonis C., Baumbach, Clemens, Boehnke, Michael, Brazel, David M, Chen, Chu, Corley, Janie, Chou, Yi-Ling, David, Sean P., de Boer, Rudolf A., Dennis, Joe G., Easton, Douglas F., Eaton, Charles, Goate, Alison, Grabe, Hans J., Haessler, Jeff, Hallmans, Göran, Harris, Sarah E., Hattersley, Andrew, Heath, Andrew, Kapoor, Manav, Karpe, Fredrik, Kooner, Jaspal S., Kooperberg, Charles, Laakso, Markku, Langenberg, Claudia, Luan, Jian’an, Madden, Pamela A. F., Mangino, Massimo, Marouli, Eirini, Marten, Jonathan, McGue, Matt, Moayyeri, Alireza, Moitry, Marie, Naheed, Aliya, Nauck, Matthias, Neville, Matthew J., Nielsen, Sune Fallgaard, Perola, Markus, Pharoah, Paul D. P., Rasheed, Asif, Renström, Frida, Rice, John, Rohde, Rebecca, Samuel, Maria, Scholte, Steven H, Scott, Robert A., Shao, Yaming, Smith, Jennifer A., Starr, John M., Stram, Danielle, Stringham, Heather M., Tachmazidou, Ioanna, Tardif, Jean-Claude, Thompson, Deborah J., Tindle, Hilary A., Tragante, Vinicius, Trompet, Stella, Turcot, Valerie, Tyrrell, Jessica, van der Leij, Andries R, van der Meer, Peter, Verweij, Niek, Warren, Helen R., Weiss, Stefan, Wetherill, Leah, Yaghootkar, Hanieh, Jiang, Yu, Chen, Fang, Zhan, Xiaowei, Zhang, Weihua, Zhao, Wei, Zhao, Wei, Zhou, Kaixin, Amouyel, Philippe, Blankenberg, Stefan, Caulfield, Mark J., Chowdhury, Rajiv, Cucca, Francesco, Deary, Ian J., Deloukas, Panos, Ferrario, Marco, Frossard, Philippe, Hall, Ian P., Jansson, Jan-Håkan, Kee, Frank, Munroe, Patricia B., Palmer, Colin N. A., Sattar, Naveed, Spector, Timothy, Zeggini, Eleftheria, Saleheen, Danish, Danesh, John, Tobin, Martin D.

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The genetic regulatory signature of type 2 diabetes in human skeletal muscle von Scott, Laura J., Erdos, Michael R., Huyghe, Jeroen R., Welch, Ryan P., Beck, Andrew T., Wolford, Brooke N., Chines, Peter S., Didion, John P., Narisu, Narisu, Stringham, Heather M., Taylor, D. Leland, Jackson, Anne U., Vadlamudi, Swarooparani, Bonnycastle, Lori L., Kinnunen, Leena, Saramies, Jouko, Sundvall, Jouko, Albanus, Ricardo D'Oliveira, Kiseleva, Anna, Hensley, John, Crawford, Gregory E., Jiang, Hui, Wen, Xiaoquan, Watanabe, Richard M., Lakka, Timo A., Mohlke, Karen L., Laakso, Markku, Tuomilehto, Jaakko, Koistinen, Heikki A., Boehnke, Michael, Collins, Francis S., Parker, Stephen C. J.

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Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution von Wu, Ying, Broadaway, K Alaine, Raulerson, Chelsea K, Scott, Laura J, Pan, Calvin, Ko, Arthur, He, Aiqing, Tilford, Charles, Fuchsberger, Christian, Locke, Adam E, Stringham, Heather M, Jackson, Anne U, Narisu, Narisu, Kuusisto, Johanna, Pajukanta, Päivi, Collins, Francis S, Boehnke, Michael, Laakso, Markku, Lusis, Aldons J, Civelek, Mete, Mohlke, Karen L

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Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing von Hanks, Sarah C., Forer, Lukas, Schönherr, Sebastian, LeFaive, Jonathon, Martins, Taylor, Welch, Ryan, Gagliano Taliun, Sarah A., Braff, David, Johnsen, Jill M., Kenny, Eimear E., Konkle, Barbara A., Laakso, Markku, Loos, Ruth F.J., McCarroll, Steven, Pato, Carlos, Pato, Michele T., Smith, Albert V., Boehnke, Michael, Scott, Laura J., Fuchsberger, Christian

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Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk von Yin, Xianyong, Bose, Debraj, Kwon, Annie, Hanks, Sarah C., Jackson, Anne U., Stringham, Heather M., Welch, Ryan, Oravilahti, Anniina, Fernandes Silva, Lilian, Locke, Adam E., Fuchsberger, Christian, Service, Susan K., Erdos, Michael R., Bonnycastle, Lori L., Kuusisto, Johanna, Stitziel, Nathan O., Hall, Ira M., Morrison, Jean, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B., Collins, Francis S., Mohlke, Karen L., Scott, Laura J., Fauman, Eric B., Burant, Charles, Boehnke, Michael, Laakso, Markku, Wen, Xiaoquan

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ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19 von El-Sayed Moustafa, Julia S., Jackson, Anne U., Brotman, Sarah M., Guan, Li, Villicaña, Sergio, Roberts, Amy L., Zito, Antonino, Bonnycastle, Lori, Erdos, Michael R., Narisu, Narisu, Stringham, Heather M., Welch, Ryan, Yan, Tingfen, Lakka, Timo, Parker, Stephen, Tuomilehto, Jaakko, Seow, Jeffrey, Graham, Carl, Huettner, Isabella, Acors, Sam, Kouphou, Neophytos, Wadge, Samuel, Duncan, Emma L., Steves, Claire J., Doores, Katie J., Malim, Michael H., Collins, Francis S., Pajukanta, Päivi, Boehnke, Michael, Koistinen, Heikki A., Laakso, Markku, Falchi, Mario, Bell, Jordana T., Scott, Laura J., Mohlke, Karen L., Small, Kerrin S.

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