Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

by Altshuler, David
Published 2013

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

by Altshuler, David
Published 2015

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

by Altshuler, David
Published 2014

The genetic architecture of type 2 diabetes

by Altshuler, David
Published 2018

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

by Altshuler, David
Published 2015

An integrated map of genetic variation from 1,092 human genomes

by Altshuler, David, Lander, Eric Steven
Published 2014

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

by Green, Todd, Guiducci, Candace, Segre, Ayellet V., Daly, Mark J., Altshuler, David, Korn, Joshua M.
Published 2011

A map of human genome variation from population-scale sequencing

by Altshuler, David, Daly, Mark J., Grossman, Sharon Rachel, Jaffe, David B., Korn, Joshua M., Lander, Eric Steven
Published 2012

Efficiency and Power as a Function of Sequence Coverage, SNP Array Density, and Imputation

by Flannick, Jason, Korn, Joshua M., Fontanillas, Pierre, Grant, George B., Depristo, Mark A., Altshuler, David, Banks, Eric 1976-
Published 2012

Identifying relationships among genomic disease regions: predicting= pathogenic SNP associations and rare deletions

by Raychaudhuri, Soumya, Plenge, Robert M., Rossin, Elizabeth, Ng, Aylwin C. Y., Purcell, Shaun M., Sklar, Pamela, Scolnick, Edward Mark, Xavier, Ramnik J., Altshuler, David, Daly, Mark J.
Published 2010

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

by McKenna, Aaron, Hanna, Matthew, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey B., Daly, Mark J., DePristo, Mark A., Banks, Eric 1976-
Published 2014

Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

by Daly, Mark J., Altshuler, David, Xavier, Ramnik J., Sklar, Pamela, Purcell, Shaun M., International Schizophrenia Consortium, Ng, Aylwin C. Y., Scolnick, Edward Mark, Rossin, Elizabeth, Plenge, Robert M., Raychaudhuri, Soumya
Published 2010

The Lin28/let-7 Axis Regulates Glucose Metabolism

by Zhu, Hao, Shyh-Chang, Ng, Segrè, Ayellet V, Shinoda, Gen, Shah, Samar P, Einhorn, William S., Takeuchi, Ayumu, Engreitz, Jesse Michael, Hagan, John P., Kharas, Michael G., Urbach, Achia, Thornton, James E., Triboulet, Robinson, Gregory, Richard I., Altshuler, David, Daley, George Q.
Published 2014

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

by Ardissino, Diego, Berzuini, Carlo, Merlini, Piera Angelica, Mannuccio Mannucci, Pier, Surti, Aarti, Burtt, Noel, Voight, Benjamin, Tubaro, Marco, Peyvandi, Flora, Spreafico, Marta, Celli, Patrizia, Lina, Daniela, Notarangelo, Maria Francesca, Ferrario, Maurizio, Fetiveau, Raffaela, Casari, Giorgio, Galli, Michele, Ribichini, Flavio, Rossi, Marco L., Bernardi, Francesco, Marziliano, Nicola, Zonzin, Pietro, Mauri, Francesco, Piazza, Alberto, Foco, Luisa, Bernardinelli, Luisa, Altshuler, David, Kathiresan, Sekar
Published 2014

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

by Lowe, Jennifer K., Maller, Julian B., Pe'er, Itsik, Neale, Benjamin M., Salit, Jacqueline, Kenny, Eimear E., Shea, Jessica L., Burkhardt, Ralph, Smith, J. Gustav, Ji, Weizhen, Noel, Martha, Foo, Jia Nee, Blundell, Maude L., Skilling, Vita, Garcia, Laura, Sullivan, Marcia L., Lee, Heather E., Labek, Anna, Ferdowsian, Hope, Auerbach, Steven B., Lifton, Richard P., Newton-Cheh, Christopher, Breslow, Jan L., Stoffel, Markus, Daly, Mark J., Altshuler, David, Friedman, Jeffrey M.
Published 2014

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

by Rusu, Victor, Hoch, Eitan, Mercader, Josep M., Tenen, Danielle E., Gymrek, Melissa, Hartigan, Christina R., DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A., Pierce, Kerry A., Dennis, Courtney, Clish, Clary B., Carr, Steven A., Wagner, Bridget K., Schenone, Monica, Ng, Maggie C.Y, Chen, Brian H., Centeno-Cruz, Federico, Zerrweck, Carlos, Orozco, Lorena, Schreiber, Stuart L., Florez, Jose C., Jacobs, Suzanne B.R, Ng, Maggie C.Y, Shriner, Daniel, Chen, Brian H., Li, Jiang, Chen, Wei-Min, Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J., Yanek, Lisa R., Nalls, Michael A., Comeau, Mary E., Rasmussen-Torvik, Laura J., Jensen, Richard A., Evans, Daniel S., Sun, Yan V., An, Ping, Patel, Sanjay R., Lu, Yingchang, Long, Jirong, Armstrong, Loren L., Wagenknecht, Lynne, Yang, Lingyao, Snively, Beverly M., Palmer, Nicholette D., Mudgal, Poorva, Langefeld, Carl D., Keene, Keith L., Freedman, Barry I., Mychaleckyj, Josyf C., Nayak, Uma, Raffel, Leslie J., Goodarzi, Mark O., Chen, Y-D Ida, Taylor, Herman A., Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S., Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Chen, Guanjie, Mathias, Rasika A., Vaidya, Dhananjay, Singleton, Andrew B., Zonderman, Alan B., Igo, Robert P., Sedor, John R., Kabagambe, Edmond K., Siscovick, David S., McKnight, Barbara, Rice, Kenneth, Liu, Yongmei, Hsueh, Wen-Chi, Zhao, Wei, Bielak, Lawrence F., Kraja, Aldi, Province, Michael A., Bottinger, Erwin P., Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J., Lowe, William L., Pacheco, Jennifer A., Crawford, Dana C., Grundberg, Elin, Rich, Stephen S., Hayes, M. Geoffrey, Shu, Xiao-Ou, Loos, Ruth J.F, Borecki, Ingrid B., Peyser, Patricia A., Cummings, Steven R., Psaty, Bruce M., Fornage, Myriam, Iyengar, Sudha K., Evans, Michele K., Becker, Diane M., Kao, W.H. Linda, Wilson, James G., Rotter, Jerome I., Sale, Michèle M., Liu, Simin, Rotimi, Charles N., Bowden, Donald W., Mercader, Josep M., Huerta-Chagoya, Alicia, García-Ortiz, Humberto, Moreno-Macías, Hortensia, Manning, Alisa, Caulkins, Lizz, Burtt, Noël P., Flannick, Jason, Patterson, Nick, Aguilar-Salinas, Carlos A., Tusié-Luna, Teresa, Altshuler, David, Florez, Jose C., Martínez-Hernández, Angélica, Centeno-Cruz, Federico, Barajas-Olmos, Francisco Martin, Zerrweck, Carlos, Contreras-Cubas, Cecilia, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio, Soberón, Xavier, Orozco, Lorena, González-Villalpando, Clicerio, González-Villalpando, María Elena, Haiman, Christopher A., Wilkens, Lynne, Le Marchand, Loic, Monroe, Kristine, Kolonel, Laurence, Arellano-Campos, Olimpia, Ordóñez-Sánchez, Maria L., Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, Rodríguez-Guillén, Rosario, Cruz-Bautista, Ivette, Muñoz-Hernandez, Linda Liliana, Sáenz, Tamara, Gómez, Donají, Alvirde, Ulices, Almeda-Valdés, Paloma, Cortes, Maria L., Lander, Eric Steven, Altshuler, David
Published 2018

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

by Hunter, Kent W., Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Hansen, Thomas v. O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W, van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E., Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, Marjanka K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, Maartje J., Cox, Angela, Pharoah, Paul D.P, Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Eccles, D.
Published 2013

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

by Jason, Flannick, Fuchsberger, Christian, Mahajan, Anubha, Teslovich, Tanya M., Agarwala, Vineeta, Gaulton, Kyle J., Caulkins, Lizz, Koesterer, Ryan, Ma, Clement, Moutsianas, Loukas, McCarthy, Davis J., Rivas, Manuel A., Perry, John R. B., Sim, Xueling, Blackwell, Thomas W., Robertson, Neil R., Rayner, N William, Cingolani, Pablo, Locke, Adam E., Tajes, Juan Fernandez, Highland, Heather M., Dupuis, Josee, Chines, Peter S., Lindgren, Cecilia M., Hartl, Christopher, Jackson, Anne U., Chen, Han, Huyghe, Jeroen R., van de Bunt, Martijn, Pearson, Richard D., Kumar, Ashish, Müller-Nurasyid, Martina, Grarup, Niels, Stringham, Heather M., Gamazon, Eric R., Chen, Yuhui, Scott, Robert A., Below, Jennifer E., Chen, Peng, Huang, Jinyan, Go, Min Jin, Stitzel, Michael L., Pasko, Dorota, Parker, Stephen C. J., Varga, Tibor V., Green, Todd, Beer, Nicola L., Day-Williams, Aaron G., Ferreira, Teresa, Fingerlin, Tasha, Horikoshi, Momoko, Hu, Cheng, Huh, Iksoo, Ikram, Mohammad Kamran, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Kwon, Min-Seok, Lee, Juyoung, Lee, Selyeong, Lin, Keng-Han, Maxwell, Taylor J., Nagai, Yoshihiko, Wang, Xu, Welch, Ryan P., Yoon, Joon, Zhang, Weihua, Barzilai, Nir, Voight, Benjamin F., Han, Bok-Ghee, Jenkinson, Christopher P., Kuulasmaa, Teemu, Kuusisto, Johanna, Manning, Alisa, Ng, Maggie C. Y., Palmer, Nicholette D., Balkau, Beverley, Stančáková, Alena, Abboud, Hanna E., Boeing, Heiner, Giedraitis, Vilmantas, Prabhakaran, Dorairaj, Gottesman, Omri, Scott, James, Carey, Jason, Kwan, Phoenix, Grant, George, Smith, Joshua D., Neale, Benjamin M., Purcell, Shaun, Butterworth, Adam S., Howson, Joanna M. M., Lee, Heung Man, Lu, Yingchang, Kwak, Soo-Heon, Zhao, Wei, Danesh, John, Lam, Vincent K. L., Park, Kyong Soo, Saleheen, Danish, So, Wing Yee, Tam, Claudia H. T., Afzal, Uzma, Aguilar, David, Arya, Rector, Aung, Tin, Chan, Edmund, Navarro, Carmen, Cheng, Ching-Yu, Palli, Domenico, Correa, Adolfo, Curran, Joanne E., Rybin, Dennis, Farook, Vidya S., Fowler, Sharon P., Freedman, Barry I., Griswold, Michael, Hale, Daniel Esten, Hicks, Pamela J., Khor, Chiea-Chuen, Kumar, Satish, Lehne, Benjamin, Thuillier, Dorothée, Lim, Wei Yen, Liu, Jianjun, Loh, Marie, Musani, Solomon K., Puppala, Sobha, Scott, William R., Yengo, Loïc, Tan, Sian-Tsung, Taylor, Herman A., Thameem, Farook, Wilson, Gregory, Wong, Tien Yin, Njølstad, Pål Rasmus, Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Schwarzmayr, Thomas, Fadista, João, Surdulescu, Gabriela L., Herder, Christian, Groves, Christopher J., Wieland, Thomas, Bork-Jensen, Jette, Brandslund, Ivan, Christensen, Cramer, Koistinen, Heikki A., Doney, Alex S. F., Kinnunen, Leena, Esko, Tõnu, Farmer, Andrew J., Hakaste, Liisa, Hodgkiss, Dylan, Kravic, Jasmina, Lyssenko, Valeri, Hollensted, Mette, Jørgensen, Marit E., Jørgensen, Torben, Ladenvall, Claes, Justesen, Johanne Marie, Käräjämäki, Annemari, Kriebel, Jennifer, Rathmann, Wolfgang, Lannfelt, Lars, Lauritzen, Torsten, Narisu, Narisu, Linneberg, Allan, Melander, Olle, Milani, Lili, Neville, Matt, Orho-Melander, Marju, Qi, Lu, Qi, Qibin, Roden, Michael, Rolandsson, Olov, Altshuler, David, Lee, Jaehoon, Ph. D. Massachusetts Institute of Technology
Published 2018