Analysis of protein-coding genetic variation in 60,706 humans von Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.

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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants von Fu, Wenqing, O’Connor, Timothy D., Jun, Goo, Kang, Hyun Min, Abecasis, Goncalo, Leal, Suzanne M., Gabriel, Stacey, Rieder, Mark J., Altshuler, David, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., NHLBI Exome Sequencing Project, Akey, Joshua M.

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Characteristic features of the electronic spectrum and the stability of ternary diamond-like semiconductors von Altshuler, A. M., Vekilov, Yu. Kh, Umarov, G. R.

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A global reference for human genetic variation von Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Garrison, Erik P, Kang, Hyun Min, Korbel, Jan O, Marchini, Jonathan L, McCarthy, Shane, McVean, Gil A, Abecasis, Gonçalo R

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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction von Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Angelica Merlini, Pier, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F. R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Kees Hovingh, G., Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Adrienne Cupples, L., Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Wilson Tang, W. H., Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O'Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar

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An integrated map of genetic variation from 1,092 human genomes von Abecasis, Goncalo R, Auton, Adam, Brooks, Lisa D, DePristo, Mark A, Durbin, Richard M, Handsaker, Robert E, Kang, Hyun Min, Marth, Gabor T, McVean, Gil A

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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, Blevins, J, Zhang, SL, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, SJ, Boyd, A, Will, RG, Knight, R, Ponto, C, Zerr, I, Kraus, TFJ, Eigenbrod, S, Giese, A, Calero, M, de Pedro-Cuesta, J, Haik, S, Laplanche, JL, Bouaziz-Amar, E, Brandel, JP, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, AH, Karczewski, KJ, Marshall, JL, Boehnke, M, Laakso, M, Mohlke, KL, Kahler, A, Chambert, K, McCarroll, S, Sullivan, PF, Hultman, CM, Purcell, SM, Sklar, P, van der Lee, SJ, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, van Rooij, JGJ, Ikram, MA, Uitterlinden, AG, van Duijn, CM, Daly, MJ, MacArthur, DG

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Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics von Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, Gerstein, Mark

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Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel von Delaneau, Olivier, Marchini, Jonathan

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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections von Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, Milewicz, Dianna M.

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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome von Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S, Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth K, Li, Alexander H, d'Indy, Hyacintha, Braverman, Alan C, Grandchamp, Bernard, Kwartler, Callie S, Gouya, Laurent, Santos-Cortez, Regie Lyn P, Abifadel, Marianne, Leal, Suzanne M, Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J, Vahanian, Alec, Nickerson, Deborah A, Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M

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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol von Lange, Leslie A., Schmidt, Ellen M., Bizon, Chris, Jun, Goo, Auer, Paul, Li, Kuo-ping, Locke, Adam, Rivas, Manuel A., Feitosa, Mary F., Zhang, Qunyuan, Huffman, Jennifer E., Crosby, Jacy, Robinson, Jennifer G., Crosslin, David R., Rosenthal, Elisabeth A., Tsai, Michael, Rieder, Mark J., Fox, Ervin R., van Duijn, Cornelia M., Taylor, Herman A., Loos, Ruth J.F., Ballantyne, Christie M., Reiner, Alexander P., Cupples, L. Adrienne, Kang, Hyun Min, Lettre, Guillaume, Rader, Daniel J., Reilly, Muredach P., Stoletzki, Nina, Barr, R. Graham, Benjamin, Emelia J., Carr, Jeff, Dupuis, Josée, Ellis, Jaclyn, Fornage, Myriam, Goff, David, Grody, Wayne, Heard-Costa, Nancy L., Levy, Daniel, Li, Dalin, Loria, Cay, Mackey, Rachel, Quinlan, Aaron R., Rice, Kenneth, Sanders, Jill P., Tracy, Russell P., Tsai, Michael Y., Wassel, Chrstina L., Watson, Karol, Wilson, Gregory, Wilson, James G., Zakai, Neil A., Nalls, Michael, Bamshad, Michael J., Accurso, Frank, Beaty, Terri, Caplan, Daniel, Chidekel, Aaron, Christiani, David C., De Paula, Alicia, Gutierrez, Hector, Hassoun, Paul M., Hiatt, Peter, Hummer, Laura K., Kim, Yoonhee, Lin, Xihong, Louie, Tin L., Mathias, Rasika A., McNamara, John, McNamara, Sharon, Nielson, Dennis, Orenstein, David, O’Sullivan, Brian, Passero, Mary Ann, Perkett, Elizabeth, Spencer, Terry, Tabor, Holly K., Weiss, Robert, Wigley, Fred, Wise, Robert A., Wurfel, Mark M., Eichler, Evan E., Fu, Wenqing, Smith, Joshua D., Tennessen, Jacob A., Peters, Ulrike, Brzyski, Robert, Curb, J. David, Eaton, Charles B., Heiss, Gerardo, Johnson, Karen C., Lasser, Norman, Lin, Dan-Yu, Logsdon, Benjamin A., Manson, JoAnn E., Martin, Lisa, Stein, Evan, Applebaum-Bowden, Deborah, Paltoo, Dina N., Sturcke, Anne

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Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences von Colonna, Vincenza, Ayub, Qasim, Chen, Yuan, Pagani, Luca, Luisi, Pierre, Pybus, Marc, Garrison, Erik, Xue, Yali, Tyler-Smith, Chris, Abecasis, Goncalo R, Auton, Adam, Brooks, Lisa D, DePristo, Mark A, Durbin, Richard M, Handsaker, Robert E, Kang, Hyun Min, Marth, Gabor T, McVean, Gil A

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results von Tabor, Holly K., Auer, Paul L., Jamal, Seema M., Chong, Jessica X., Yu, Joon-Ho, Gordon, Adam S., Graubert, Timothy A., O’Donnell, Christopher J., Rich, Stephen S., Nickerson, Deborah A., Bamshad, Michael J.

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset von Gordon, Adam S, Tabor, Holly K, Johnson, Andrew D, Snively, Beverly M, Assimes, Themistocles L, Auer, Paul L, Ioannidis, John P A, Peters, Ulrike, Robinson, Jennifer G, Sucheston, Lara E, Wang, Danxin, Sotoodehnia, Nona, Rotter, Jerome I, Psaty, Bruce M, Jackson, Rebecca D, Herrington, David M, O'Donnell, Christopher J, Reiner, Alexander P, Rich, Stephen S, Rieder, Mark J, Bamshad, Michael J, Nickerson, Deborah A

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Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project von Auer, Paul L, Nalls, Mike, Meschia, James F, Worrall, Bradford B, Longstreth, W. T, Seshadri, Sudha, Kooperberg, Charles, Burger, Kathleen M, Carlson, Christopher S, Carty, Cara L, Chen, Wei-Min, Cupples, L. Adrienne, DeStefano, Anita L, Fornage, Myriam, Hardy, John, Hsu, Li, Jackson, Rebecca D, Jarvik, Gail P, Kim, Daniel S, Lakshminarayan, Kamakshi, Lange, Leslie A, Manichaikul, Ani, Quinlan, Aaron R, Singleton, Andrew B, Thornton, Timothy A, Nickerson, Deborah A, Peters, Ulrike, Rich, Stephen S

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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project von Johnsen, Jill M., Auer, Paul L., Morrison, Alanna C., Jiao, Shuo, Wei, Peng, Haessler, Jeffrey, Fox, Keolu, McGee, Sean R., Smith, Joshua D., Carlson, Christopher S., Smith, Nicholas, Boerwinkle, Eric, Kooperberg, Charles, Nickerson, Deborah A., Rich, Stephen S., Green, David, Peters, Ulrike, Cushman, Mary, Reiner, Alex P.

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The stability of the inert gas A (2)B (8) compounds von Altshuler, A.M., Vekilov, Yu.Kh, Umarov, G.R.

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Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas von Martagón, Alexandro J, Bello-Chavolla, Omar Yaxmehen, Arellano-Campos, Olimpia, Almeda-Valdés, Paloma, Walford, Geoffrey A, Cruz-Bautista, Ivette, Gómez-Velasco, Donají V, Mehta, Roopa, Muñoz-Hernández, Liliana, Sevilla-González, Magdalena, Viveros-Ruiz, Tannia L, Ordoñez-Sánchez, María Luisa, Rodríguez-Guillen, Rosario, Florez, Jose C, Tusié-Luna, María Teresa, Aguilar-Salinas, Carlos A

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Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy von Norton, Nadine, Li, Duanxiang, Rampersaud, Evadnie, Morales, Ana, Martin, Eden R, Zuchner, Stephan, Guo, Shengru, Gonzalez, Michael, Hedges, Dale J, Robertson, Peggy D, Krumm, Niklas, Nickerson, Deborah A, Hershberger, Ray E

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