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by Fuchsberger, Christian and Flannick, Jason and Teslovich, Tanya M and Mahajan, Anubha and Agarwala, Vineeta and Gaulton, Kyle J and Ma, Clement and Fontanillas, Pierre and Moutsianas, Loukas and McCarthy, Davis J and Rivas, Manuel A and Perry, John R. B and Sim, Xueling and Blackwell, Thomas W and Robertson, Neil R and Rayner, N. William and Cingolani, Pablo and Locke, Adam E and Fernandez Tajes, Juan and Highland, Heather M and Dupuis, Josee and Chines, Peter S and Lindgren, Cecilia M and Hartl, Christopher and Jackson, Anne U and Chen, Han and Huyghe, Jeroen R and van de Bunt, Martijn and Pearson, Richard D and Kumar, Ashish and Müller-Nurasyid, Martina and Grarup, Niels and Stringham, Heather M and Gamazon, Eric R and Lee, Jaehoon and Chen, Yuhui and Scott, Robert A and Below, Jennifer E and Chen, Peng and Huang, Jinyan and Go, Min Jin and Stitzel, Michael L and Pasko, Dorota and Parker, Stephen C. J and Varga, Tibor V and Green, Todd and Beer, Nicola L and Day-Williams, Aaron G and Ferreira, Teresa and Fingerlin, Tasha and Horikoshi, Momoko and Hu, Cheng and Huh, Iksoo and Ikram, Mohammad Kamran and Kim, Bong-Jo and Kim, Yongkang and Kim, Young Jin and Kwon, Min-Seok and Lee, Juyoung and Lee, Selyeong and Lin, Keng-Han and Maxwell, Taylor J and Nagai, Yoshihiko and Wang, Xu and Welch, Ryan P and Yoon, Joon and Zhang, Weihua and Barzilai, Nir and Voight, Benjamin F and Han, Bok-Ghee and Jenkinson, Christopher P and Kuulasmaa, Teemu and Kuusisto, Johanna and Manning, Alisa and Ng, Maggie C. Y and Palmer, Nicholette D and Balkau, Beverley and Stancáková, Alena and Abboud, Hanna E and Boeing, Heiner and Gieaitis, Vilmantas and Prabhakaran, Dorairaj and Gottesman, Omri and Scott, James and Carey, Jason and Kwan, Phoenix and Grant, George and Smith, Joshua D and Neale, Benjamin M and Purcell, Shaun and Butterworth, Adam S and Howson, Joanna M. M and Lee, Heung Man and Lu, Yingchang and Kwak, Soo-Heon and Zhao, Wei and Danesh, John and Lam, Vincent K. L and Park, Kyong Soo and Saleheen, Danish and ... and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Allmänmedicin and Umeå universitet and Medicin
Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7614, pp. 41 - +
Journal Article
Nature, ISSN 0028-0836, 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 | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
by Altshuler, David L and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Collins, Francis S and De La Vega, Francisco M and Donnelly, Peter and Egholm, Michael and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Knoppers, Bartha M and Lander, Eric S and Lehrach, Hans and Mardis, Elaine R and McVean, Gil A and Nickerson, Debbie A and Peltonen, Leena and Schafer, Alan J and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Deiros, David and Metzker, Mike and Muzny, Donna and Reid, Jeff and Wheeler, David and Wang, Shenzhen Jun and Li, Jingxiang and Jian, Min and Li, Guoqing and Li, Ruiqiang and Liang, Huiqing and Tian, Geng and Wang, Bo and Wang, Jian and Wang, Wei and Yang, Huanming and Zhang, Xiuqing and Zheng, Huisong and Ambrogio, Lauren and Bloom, Toby and Cibulskis, Kristian and Fennell, Tim J and Jaffe, David B and Shefler, Erica and Sougnez, Carrie L and Bentley, Illumina David R and Gormley, Niall and Humphray, Sean and Kingsbury, Zoya and Koko-Gonzales, Paula and Stone, Jennifer and Mc Kernan, Kevin J and Costa, Gina L and Ichikawa, Jeffry K and Lee, Clarence C and Sudbrak, Ralf and Borodina, Tatiana A and Dahl, Andreas and Davydov, Alexey N and Marquardt, Peter and Mertes, Florian and Nietfeld, Wilfiried and Rosenstiel, Philip and Schreiber, Stefan and Soldatov, Aleksey V and Timmermann, Bernd and Tolzmann, Marius and Affourtit, Jason and Ashworth, Dana and Attiya, Said and Bachorski, Melissa and Buglione, Eli and Burke, Adam and Caprio, Amanda and Celone, Christopher and Clark, Shauna and Conners, David and Desany, Brian and Gu, Lisa and Guccione, Lorri and Kao, Kalvin and Kebbel, Andrew and Knowlton, Jennifer and Labrecque, Matthew and McDade, Louise and Mealmaker, Craig and Minderman, Melissa and Nawrocki, Anne and Niazi, Faheem and Pareja, Kristen and Ramenani, Ravi and Riches, David and Song, Wanmin and Turcotte, Cynthia and Wang, Shally and Dooling, David and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 10/2010, Volume 467, Issue 7319, pp. 1061 - 1073
Journal Article
by Neale, Benjamin M and Neale, Benjamin M and Kou, Yan and Samocha, Kaitlin E and Liu, Li and Lim, Elaine and Ma'Ayan, Avi and Rossin, Elizabeth and Samocha, Kaitlin E and Kirby, Andrew and Fromer, Menachem and Sabo, Aniko and Lin, Chiao-Feng and Daly, Mark J and Stevens, Christine and Rossin, Elizabeth and Kirby, Andrew and Wang, Li-San and Makarov, Vladimir and Flannick, Jason and Polak, Paz and Fromer, Menachem and Shakir, Khalid and Yoon, Seungtai and Maguire, Jared and Fennell, Tim and Garimella, Kiran and Crawford, Emily L and Banks, Eric and Campbell, Nicholas G and Poplin, Ryan and Geller, Evan T and Valladares, Otto and Gabriel, Stacey and Schafer, Chad and De Pristo, Mark and Sunyaev, Shamil and Liu, Han and Daly, Mark J and Zhao, Tuo and Cai, Guiqing and Lihm, Jayon and Dannenfelser, Ruth and Jabado, Omar and Peralta, Zuleyma and Nagaswamy, Uma and Muzny, Donna and Reid, Jeffrey G and Newsham, Irene and Wu, Yuanqing and Lewis, Lora and Han, Yi and Voight, Benjamin F and Lim, Elaine and Rossin, Elizabeth and Kirby, Andrew and Flannick, Jason and Fromer, Menachem and Shakir, Khalid and Fennell, Tim and Garimella, Kiran and Banks, Eric and Poplin, Ryan and Gabriel, Stacey and Depristo, Mark and Wimbish, Jack R and Boone, Braden E and Levy, Shawn E and Betancur, Catalina and Sunyaev, Shamil and Boerwinkle, Eric and Buxbaum, Joseph D and Cook Jr, Edwin H and Devlin, Bernie and Gibbs, Richard A and Roeder, Kathryn and Schellenberg, Gerard D and Sutcliffe, James S and Daly, Mark J
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 242 - 246