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

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Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome von Locke, Devin P., Sharp, Andrew J., McCarroll, Steven A., McGrath, Sean D., Newman, Tera L., Cheng, Ze, Schwartz, Stuart, Albertson, Donna G., Pinkel, Daniel, Altshuler, David M., Eichler, Evan E.

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Copy number variation: new insights in genome diversity von Freeman, Jennifer L, Perry, George H, Feuk, Lars, Redon, Richard, McCarroll, Steven A, Altshuler, David M, Aburatani, Hiroyuki, Jones, Keith W, Tyler-Smith, Chris, Hurles, Matthew E, Carter, Nigel P, Scherer, Stephen W, Lee, Charles

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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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DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation von GUSEV, Alexander, KENNY, Eimear E, LOWE, Jennifer K, SALIT, Jaqueline, SAXENA, Richa, KATHIRESAN, Sekar, ALTSHULER, David M, FRIEDMAN, Jeffrey M, BRESLOW, Jan L, PE'ER, Itsik

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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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Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae von Smith, J. Gustav, MD, Lowe, Jennifer K., PhD, Kovvali, Sirisha, BA, Maller, Julian B., BSc, Salit, Jacqueline, MS, Daly, Mark J., PhD, Stoffel, Markus, MD, PhD, Altshuler, David M., MD, PhD, Friedman, Jeffrey M., MD, PhD, Breslow, Jan L., MD, Newton-Cheh, Christopher, MD, MPH

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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans von Taskinen, Marja-Riitta, Melander, Olle, Tai, E Shyong, Rieder, Mark J, Groop, Leif, Corella, Dolores, Surti, Aarti, Jousilahti, Pekka, Kathiresan, Sekar, Hedblad, Bo, Burtt, Noël P, Peltonen, Leena, Berglund, Göran, Havulinna, Aki S, Hedner, Thomas, Ordovas, Jose M, Orho-Melander, Marju, Salomaa, Veikko, Cooper, Gregory M, Wahlstrand, Björn, Roos, Charlotta, Guiducci, Candace, Altshuler, David M, Voight, Benjamin F, Vartiainen, Erkki, Newton-Cheh, Christopher

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Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity von Usher, Christina L, Handsaker, Robert E, Esko, Tõnu, Tuke, Marcus A, Weedon, Michael N, Hastie, Alex R, Cao, Han, Moon, Jennifer E, Kashin, Seva, Fuchsberger, Christian, Metspalu, Andres, Pato, Carlos N, Pato, Michele T, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Frayling, Timothy M, Hirschhorn, Joel N, McCarroll, Steven A

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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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Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants von Ito, Kaoru, Bick, Alexander G, Flannick, Jason, Friedman, David J, Genovese, Giulio, Parfenov, Michael G, DePalma, Steven R, Gupta, Namrata, Gabriel, Stacey B, Taylor, Herman A, Fox, Ervin R, Newton-Cheh, Christopher, Kathiresan, Sekar, Hirschhorn, Joel N, Altshuler, David M, Pollak, Martin R, Wilson, James G, Seidman, J.G, Seidman, Christine

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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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Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae von Kenny, Eimear E, Gusev, Alexander, Riegel, Kaitlin, Lütjohann, Dieter, Lowe, Jennifer K, Salit, Jacqueline, Maller, Julian B, Stoffel, Markus, Daly, Mark J, Altshuler, David M, Friedman, Jeffrey M, Breslow, Jan L, Pe'er, Itsik, Sehayek, Ephraim

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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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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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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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