Copy-number variation and association studies of human disease von McCarroll, Steven A, Altshuler, David M

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Common deletion polymorphisms in the human genome von Altshuler, David M, McCarroll, Steven A, Hadnott, Tracy N, Perry, George H, Sabeti, Pardis C, Zody, Michael C, Barrett, Jeffrey C, Dallaire, Stephanie, Gabriel, Stacey B, Lee, Charles, Daly, Mark J, The International HapMap Consortium

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A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity von Lim, Elaine T., Liu, Yangfan P., Chan, Yingleong, Tiinamaija, Tuomi, Käräjämäki, AnnMari, Madsen, Erik, Altshuler, David M., Raychaudhuri, Soumya, Groop, Leif, Flannick, Jason, Hirschhorn, Joel N., Katsanis, Nicholas, Daly, Mark J.

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Integrating common and rare genetic variation in diverse human populations von Altshuler, David M, Gibbs, Richard A, Peltonen, Leena, Dermitzakis, Emmanouil, Schaffner, Stephen F, Yu, Fuli, Bonnen, Penelope E, de Bakker, Paul I W, Deloukas, Panos, Gabriel, Stacey B, Gwilliam, Rhian, Hunt, Sarah, Inouye, Michael, Jia, Xiaoming, Palotie, Aarno, Parkin, Melissa, Whittaker, Pamela, Chang, Kyle, Hawes, Alicia, Lewis, Lora R, Ren, Yanru, Wheeler, David, Muzny, Donna Marie, Barnes, Chris, Darvishi, Katayoon, Hurles, Matthew, Korn, Joshua M, Kristiansson, Kati, Lee, Charles, McCarrol, Steven A, Nemesh, James, Keinan, Alon, Montgomery, Stephen B, Pollack, Samuela, Price, Alkes L, Soranzo, Nicole, Gonzaga-Jauregui, Claudia, Anttila, Verneri, Brodeur, Wendy, Daly, Mark J, Leslie, Stephen, McVean, Gil, Moutsianas, Loukas, Nguyen, Huy, Zhang, Qingrun, Ghori, Mohammed J R, McGinnis, Ralph, McLaren, William, Takeuchi, Fumihiko, Grossman, Sharon R, Shlyakhter, Ilya, Hostetter, Elizabeth B, Sabeti, Pardis C, Adebamowo, Clement A, Foster, Morris W, Gordon, Deborah R, Licinio, Julio, Manca, Maria Cristina, Marshall, Patricia A, Matsuda, Ichiro, Ngare, Duncan, Wang, Vivian Ota, Reddy, Deepa, Rotimi, Charles N, Royal, Charmaine D, Sharp, Richard R, Zeng, Changqing, Brooks, Lisa D, McEwen, Jean E

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Challenges and standards in integrating surveys of structural variation von SCHERER, Stephen W, LEE, Charles, BIRNEY, Ewan, ALTSHULER, David M, EICHLER, Evan E, CARTER, Nigel P, HURLES, Matthew E, FEUK, Lars

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Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events von Kathiresan, Sekar, Melander, Olle, Anevski, Dragi, Guiducci, Candace, Burtt, Noël P, Roos, Charlotta, Hirschhorn, Joel N, Berglund, Göran, Hedblad, Bo, Groop, Leif, Altshuler, David M, Newton-Cheh, Christopher, Orho-Melander, Marju

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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders von Lim, Elaine T., Raychaudhuri, Soumya, Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, MacArthur, Daniel G., Neale, Benjamin M., Kirby, Andrew, Ruderfer, Douglas M., Fromer, Menachem, Lek, Monkol, Liu, Li, Flannick, Jason, Ripke, Stephan, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Hawes, Alicia, Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Dinh, Huyen, Gross, Shannon, Wang, Li-San, Lin, Chiao-Feng, Valladares, Otto, Gabriel, Stacey B., dePristo, Mark, Altshuler, David M., Purcell, Shaun M., State, Matthew W., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Daly, Mark J.

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Prospective Study of the Association Between the Proline to Alanine Codon 12 Polymorphism in the PPARγ Gene and Type 2 Diabetes von MEMISOGLU, Asli, HU, Frank B, HANKINSON, Susan E, SIMIN LIU, MEIGS, James B, ALTSHULER, David M, HUNTER, David J, MANSON, Joann E

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot von Seidman, Christine E, Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie H, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David M, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, Jonathan G

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Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population von KENNY, Eimear E, KIM, Minseung, STOFFEL, Markus, ALTSHULER, David M, FRIEDMAN, Jeffrey M, ESKIN, Eleazar, BRESLOW, Jan L, PE'ER, Itsik, GUSEV, Alexander, LOWE, Jennifer K, SALIT, Jacqueline, GUSTAV SMITH, J, KOVVALI, Sirisha, HYUN MIN KANG, NEWTON-CHEH, Christopher, DALY, Mark J

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A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans von Clapham, Katharine R, Chu, Audrey Y, Wessel, Jennifer, Natarajan, Pradeep, Flannick, Jason, Rivas, Manuel A, Sartori, Samantha, Mehran, Roxana, Baber, Usman, Fuster, Valentin, Scott, Robert A, Rader, Daniel J, Boehnke, Michael, McCarthy, Mark I, Altshuler, David M, Kathiresan, Sekar, Peloso, Gina M

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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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A novel polymorphism of the human CD40 receptor with enhanced function von Peters, Anna L., Plenge, Robert M., Graham, Robert R., Altshuler, David M., Moser, Kathy L., Gaffney, Patrick M., Bishop, Gail A.

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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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Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome von Pe’er, Itsik, Chretien, Yves R., de Bakker, Paul I.W., Barrett, Jeffrey C., Daly, Mark J., Altshuler, David M.

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European admixture on the Micronesian island of Kosrae: lessons from complete genetic information von BONNEN, Penelope E, LOWE, Jennifer K, ALTSHULER, David M, BRESLOW, Jan L, STOFFEL, Markus, FRIEDMAN, Jeffrey M, PE'ER, Itsik

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

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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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Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms von Rusu, Victor, Hoch, Eitan, Mercader, Josep M., Tenen, Danielle E., Gymrek, Melissa, Hartigan, Christina R., DeRan, Michael, Guzman, Gaelen, Deik, Amy A., Pierce, Kerry A., Dennis, Courtney, Clish, Clary B., Carr, Steven A., Wagner, Bridget K., Chen, Brian H., Ng, Maggie C.Y., Chen, Brian H., Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J., Nalls, Michael A., Rasmussen-Torvik, Laura J., Evans, Daniel S., Sun, Yan V., Patel, Sanjay R., Lu, Yingchang, Long, Jirong, Armstrong, Loren L., Yang, Lingyao, Snively, Beverly M., Palmer, Nicholette D., Mudgal, Poorva, Keene, Keith L., Freedman, Barry I., Goodarzi, Mark O., Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S., Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Vaidya, Dhananjay, Sedor, John R., Kabagambe, Edmond K., McKnight, Barbara, Rice, Kenneth, Bielak, Lawrence F., Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J., Lowe, William L., Pacheco, Jennifer A., Crawford, Dana C., Rich, Stephen S., Shu, Xiao-Ou, Loos, Ruth J.F., Borecki, Ingrid B., Peyser, Patricia A., Fornage, Myriam, Evans, Michele K., Becker, Diane M., Kao, W.H. Linda, Wilson, James G., Sale, Michèle M., Liu, Simin, Rotimi, Charles N., Bowden, Donald W., Huerta-Chagoya, Alicia, Moreno-Macías, Hortensia, Manning, Alisa, Caulkins, Lizz, Burtt, Noël P., Flannick, Jason, Patterson, Nick, Tusié-Luna, Teresa, Altshuler, David, Florez, Jose C., Martínez-Hernández, Angélica, Centeno-Cruz, Federico, Zerrweck, Carlos, Contreras-Cubas, Cecilia, Córdova, Emilio, Soberón, Xavier, Orozco, Lorena, González-Villalpando, María Elena, Haiman, Christopher A., Le Marchand, Loic, Kolonel, Laurence, Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, Rodríguez-Guillén, Rosario, Gómez, Donají, Alvirde, Ulices, Cortes, Maria L., Centeno-Cruz, Federico, Zerrweck, Carlos, Orozco, Lorena, Jacobs, Suzanne B.R.

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