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by Lek, Monkol and Karczewski, Konrad J and Minikel, Eric V and Samocha, Kaitlin E and Banks, Eric and Fennell, Timothy and O’Donnell-Luria, Anne H and Ware, James S and Hill, Andrew J and Cummings, Beryl B and Tukiainen, Taru and Birnbaum, Daniel P and Kosmicki, Jack A and Duncan, Laramie E and Estrada, Karol and Zhao, Fengmei and Zou, James and Pierce-Hoffman, Emma and Berghout, Joanne and Cooper, David N and Deflaux, Nicole and DePristo, Mark and Do, Ron and Flannick, Jason and Fromer, Menachem and Gauthier, Laura and Goldstein, Jackie and Gupta, Namrata and Howrigan, Daniel and Kiezun, Adam and Kurki, Mitja I and Moonshine, Ami Levy and Natarajan, Pradeep and Orozco, Lorena and Peloso, Gina M and Poplin, Ryan and Rivas, Manuel A and Ruano-Rubio, Valentin and Rose, Samuel A and Ruderfer, Douglas M and Shakir, Khalid and Stenson, Peter D and Stevens, Christine and Thomas, Brett P and Tiao, Grace and Tusie-Luna, Maria T and Weisburd, Ben and Won, Hong-Hee and Yu, Dongmei and Altshuler, David M and Ardissino, Diego and Boehnke, Michael and Danesh, John and Donnelly, Stacey and Elosua, Roberto and Florez, Jose C and Gabriel, Stacey B and Getz, Gad and Glatt, Stephen J and Hultman, Christina M and Kathiresan, Sekar and Laakso, Markku and McCarroll, Steven and McCarthy, Mark I and McGovern, Dermot and McPherson, Ruth and Neale, Benjamin M and Palotie, Aarno and Purcell, Shaun M and Saleheen, Danish and Scharf, Jeremiah M and Sklar, Pamela and Sullivan, Patrick F and Tuomilehto, Jaakko and Tsuang, Ming T and Watkins, Hugh C and Wilson, James G and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium
Nature (London), ISSN 1476-4687, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Databases | Disease | Genes | Principal components analysis | Genetics | Genomes
Journal Article
by Altshuler, David M and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Donnelly, Peter and Eichler, Evan E and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Green, Eric D and Hurles, Matthew E and Knoppers, Bartha M and Korbel, Jan O and Lander, Eric S and Lee, Charles and Lehrach, Hans and Mardis, Elaine R and Marth, Gabor T and McVean, Gil A and Nickerson, Deborah A and Schmidt, Jeanette P and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Dinh, Huyen and Kovar, Christie and Lee, Sandra and Lewis, Lora and Muzny, Donna and Reid, Jeff and Wang, Min and Fang, Xiaodong and Guo, Xiaosen and Jian, Min and Jiang, Hui and Jin, Xin and Li, Guoqing and Li, Jingxiang and Li, Yingrui and Li, Zhuo and Liu, Xiao and Lu, Yao and Ma, Xuedi and Su, Zhe and Tai, Shuaishuai and Tang, Meifang and Wang, Bo and Wang, Guangbiao and Wu, Honglong and Wu, Renhua and Yin, Ye and Zhang, Wenwei and Zhao, Jiao and Zhao, Meiru and Zheng, Xiaole and Zhou, Yan and Gupta, Namrata and Clarke, Laura and Leinonen, Rasko and Smith, Richard E and Zheng-Bradley, Xiangqun and Grocock, Russell and Humphray, Sean and James, Terena and Kingsbury, Zoya and Sudbrak, Ralf and Albrecht, Marcus W and Amstislavskiy, Vyacheslav S and Borodina, Tatiana A and Lienhard, Matthias and Mertes, Florian and Sultan, Marc and Timmermann, Bernd and Yaspo, Marie-Laure and Fulton, Lucinda and Fulton, Robert and Weinstock, George M and Balasubramaniam, Senduran and Burton, John and Danecek, Petr and Keane, Thomas M and Kolb-Kokocinski, Anja and McCarthy, Shane and Stalker, James and Quail, Michael and Davies, Christopher J and Gollub, Jeremy and Webster, Teresa and Wong, Brant and Zhan, Yiping and Auton, Adam and Yu, Fuli and Bainbridge, Matthew and Challis, Danny and Evani, Uday S and Lu, James and Nagaswamy, Uma and Sabo, Aniko and ... and The 1000 Genomes Project Consortium and 1000 Genomes Project Consortium
Nature (London), ISSN 1476-4687, 2012, Volume 491, Issue 7422, pp. 56 - 65
Journal Article
Cell (Cambridge), ISSN 0092-8674, 08/2013, Volume 154, Issue 3, pp. X484 - 489
Recent reports using single-cell profiling have indicated a remarkably dynamic view of pluripotent stem cell identity. Here, we argue that the pluripotent... 
Journal Article