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An integrated map of structural variation in 2,504 human genomes
An integrated map of structural variation in 2,504 human genomes
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An integrated map of structural variation in 2,504 human genomes

Sudmant, Peter H ; Rausch, Tobias ; Gardner, Eugene J ; Handsaker, Robert E ; Abyzov, Alexej ; Huddleston, John ; Zhang, Yan ; Ye, Kai ; Jun, Goo ; Fritz, Markus Hsi-Yang ; Konkel, Miriam K ; Malhotra, Ankit ; Stütz, Adrian M ; Shi, Xinghua ; Casale, Francesco Paolo ; Chen, Jieming ; Hormozdiari, Fereydoun ; Dayama, Gargi ; Chen, Ken ; Malig, Maika ; Chaisson, Mark J P ; Walter, Klaudia ; Meiers, Sascha ; Kashin, Seva ; Garrison, Erik ; Auton, Adam ; Lam, Hugo Y K ; Mu, Xinmeng Jasmine ; Alkan, Can ; Antaki, Danny ; Bae, Taejeong ; Cerveira, Eliza ; Chines, Peter ; Chong, Zechen ; Clarke, Laura ; Dal, Elif ; Ding, Li ; Emery, Sarah ; Fan, Xian ; Gujral, Madhusudan ; Kahveci, Fatma ; Kidd, Jeffrey M ; Kong, Yu ; Lameijer, Eric-Wubbo ; McCarthy, Shane ; Flicek, Paul ; Gibbs, Richard A ; Marth, Gabor ; Mason, Christopher E ; Menelaou, Androniki ; Muzny, Donna M ; Nelson, Bradley J ; Noor, Amina ; Parrish, Nicholas F ; Pendleton, Matthew ; Quitadamo, Andrew ; Raeder, Benjamin ; Schadt, Eric E ; Romanovitch, Mallory ; Schlattl, Andreas ; Sebra, Robert ; Shabalin, Andrey A ; Untergasser, Andreas ; Walker, Jerilyn A ; Wang, Min ; Yu, Fuli ; Zhang, Chengsheng ; Zhang, Jing ; Zheng-Bradley, Xiangqun ; Zhou, Wanding ; Zichner, Thomas ; Sebat, Jonathan ; Batzer, Mark A ; McCarroll, Steven A ; Mills, Ryan E ; Gerstein, Mark B ; Bashir, Ali ; Stegle, Oliver ; Devine, Scott E ; Lee, Charles ; Eichler, Evan E ; Korbel, Jan O

Nature (London), 2015-10, Vol.526 (7571), p.75-81 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Rare and low-frequency coding variants alter human adult height
Rare and low-frequency coding variants alter human adult height
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Rare and low-frequency coding variants alter human adult height

Marouli, Eirini ; Lo, Ken Sin ; Kjaer, Troels R ; Rüeger, Sina ; Young, Kristin L ; Esko, Tõnu ; Karaderi, Tugce ; Aben, Katja K ; Adair, Linda S ; Alam, Dewan S ; Albrecht, Eva ; Auer, Paul L ; Bonnycastle, Lori L ; Bots, Michiel L ; Brandslund, Ivan ; Butterworth, Adam S ; Chambers, John C ; Chen, Yii-Der Ida ; Chowdhury, Rajiv ; Christensen, Cramer ; Chu, Audrey Y ; Cook, James P ; Cox, Amanda J ; Demerath, Ellen W ; Drenos, Fotios ; Ebeling, Tapani ; Ferrario, Marco M ; Fornage, Myriam ; Galesloot, Tessel E ; Gasparini, Paolo ; Giri, Ayush ; Hayward, Caroline ; Hocking, Lynne J ; Ikram, M Arfan ; Jensen, Gorm B ; Jiang, Xuejuan ; Kee, Frank ; Kitajima, Hidetoshi ; Komulainen, Pirjo ; Kontto, Jukka ; Kuivaniemi, Helena ; Laakso, Markku ; Lange, Leslie A ; Lewis, Cora E ; Lind, Lars ; Liu, Yeheng ; Luan, Jian'an ; Lubitz, Steven A ; Männistö, Satu ; Marten, Jonathan ; Mitchell, Paul ; Nauck, Matthias ; Neville, Matt ; Nielsen, Sune F ; Nordestgaard, Børge G ; Ntalla, Ioanna ; Owen, Katharine R ; Padmanabhan, Sandosh ; Palmer, Colin N A ; Patel, Aniruddh P ; Perry, James A ; Perry, John R B ; Polasek, Ozren ; Reiner, Alex P ; Renström, Frida ; Rioux, John D ; Rudan, Igor ; Sapkota, Yadav ; Schreiner, Pamela J ; Scott, Robert A ; Shah, Svati ; Sim, Xueling ; Smith, Albert Vernon ; Southam, Lorraine ; Spector, Timothy D ; Thorsteinsdottir, Unnur ; Tuomilehto, Jaakko ; Tybjaerg-Hansen, Anne ; Uitterlinden, André G ; Ulivi, Sheila ; van Schoor, Natasja M ; van Setten, Jessica ; Vermeulen, Sita H ; Vestergaard, Henrik ; Vogt, Thomas F ; Vozzi, Diego ; Wang, Carol A ; Wang, Shuai ; Wang, Yiqin ; Wareham, Nicholas J ; Wu, Ying ; Zhan, Xiaowei ; Zheng, He ; Zhou, Wei ; Boehnke, Michael ; Borecki, Ingrid B ; Kutalik, Zoltán ; Frayling, Timothy M ; Hirschhorn, Joel N ; Deloukas, Panos

Nature (London), 2017-02, Vol.542 (7640), p.186-190 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Engineered Cpf1 variants with altered PAM specificities
Engineered Cpf1 variants with altered PAM specificities
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Engineered Cpf1 variants with altered PAM specificities

Gao, Linyi ; Cox, David B T ; Yan, Winston X ; Manteiga, John C ; Schneider, Martin W ; Yamano, Takashi ; Nishimasu, Hiroshi ; Nureki, Osamu ; Crosetto, Nicola ; Zhang, Feng

Nature biotechnology, 2017-08, Vol.35 (8), p.789-792 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
An integrated encyclopedia of DNA elements in the human genome
An integrated encyclopedia of DNA elements in the human genome
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An integrated encyclopedia of DNA elements in the human genome

Kundaje, Anshul ; Collins, Patrick J ; Davis, Carrie A ; Khatun, Jainab ; Lajoie, Bryan R ; Landt, Stephen G ; Safi, Alexias ; Altshuler, Robert C ; Cheng, Chao ; Greven, Melissa ; Hoffman, Michael M ; Lassmann, Timo ; Thurman, Robert E ; Wu, Weisheng ; Xi, Hualin S ; Zhuang, Jiali ; Gunter, Chris ; Dekker, Job ; Elnitski, Laura ; Giddings, Morgan C ; Margulies, Elliott H ; Stamatoyannopoulos, John A ; Wold, Barbara ; Kuiper, Heather C ; Dobin, Alex ; Tanzer, Andrea ; Xue, Chenghai ; Zaleski, Chris ; Roder, Maik ; Baer, Michael T ; Bell, Kimberly ; Gordon, Assaf ; Howald, Cedric ; Johnson, Rory ; Kingswood, Colin ; Li, Guoliang ; Luo, Oscar J ; Robyr, Daniel ; Ruan, Xiaoan ; Skancke, Jorgen ; Suzuki, Ana Maria ; Takahashi, Hazuki ; Tilgner, Hagen ; Wang, Huaien ; Hayashizaki, Yoshihide ; Hannon, Gregory J ; Malladi, Venkat S ; Dreszer, Timothy R ; Showers, Kimberly A ; London, Darin ; Zhang, Zhancheng ; Keefe, Damian ; Zheng, Meizhen ; Vielmetter, Jost ; Jain, Preti ; Pusey, Barbara ; Meadows, Sarah K ; Absher, Devin M ; Pennachio, Len A ; Abyzov, Alexej ; Barrell, Daniel ; Bignell, Alexandra ; Diekhans, Mark ; Ezkurdia, Iakes ; Frankish, Adam ; Hunt, Toby ; Jungreis, Irwin ; Loveland, Jane ; Manthravadi, Deepa ; Pei, Baikang ; Snow, Catherine ; Zhang, Zhengdong ; Alexander, Roger P ; Balasubramanian, Suganthi ; Bettinger, Keith ; Cayting, Philip ; Habegger, Lukas ; Lamarre-Vincent, Nathan ; Lindahl-Allen, Marianne ; Monahan, Hannah ; Patacsil, Dorrelyn ; Struhl, Kevin ; Ma, Lijia ; Inoue, Daigo ; Kellner, Tanja ; Kirchmaier, Stephan ; Bates, Daniel L ; Canfield, Theresa K ; Boatman, Lisa ; Neph, Shane J ; Roach, Vaughn ; Sanchez, Minerva E ; Shafer, Anthony O ; Vernot, Benjamin ; Weaver, Molly A ; Akey, Joshua M ; Bender, Michael ; Navas, Patrick ; Hussami, Nadine ; Schaub, Marc A

Nature (London), 2012-09, Vol.489 (7414), p.57-74 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Advances in epigenetics link genetics to the environment and disease
Advances in epigenetics link genetics to the environment and disease
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Advances in epigenetics link genetics to the environment and disease

Cavalli, Giacomo ; Heard, Edith

Nature (London), 2019-07, Vol.571 (7766), p.489-499 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Cruchaga, Carlos ; Karch, Celeste M ; Jin, Sheng Chih ; Benitez, Bruno A ; Cai, Yefei ; Guerreiro, Rita ; Harari, Oscar ; Norton, Joanne ; Budde, John ; Bertelsen, Sarah ; Jeng, Amanda T ; Cooper, Breanna ; Skorupa, Tara ; Carrell, David ; Levitch, Denise ; Hsu, Simon ; Choi, Jiyoon ; Ryten, Mina ; Sassi, Celeste ; Bras, Jose ; Gibbs, Raphael J ; Hernandez, Dena G ; Lupton, Michelle K ; Powell, John ; Forabosco, Paola ; Ridge, Perry G ; Corcoran, Christopher D ; Tschanz, JoAnn T ; Norton, Maria C ; Munger, Ronald G ; Schmutz, Cameron ; Leary, Maegan ; Demirci, F Yesim ; Bamne, Mikhil N ; Wang, Xingbin ; Lopez, Oscar L ; Ganguli, Mary ; Medway, Christopher ; Turton, James ; Lord, Jenny ; Braae, Anne ; Barber, Imelda ; Brown, Kristelle ; Pastor, Pau ; Lorenzo-Betancor, Oswaldo ; Brkanac, Zoran ; Scott, Erick ; Topol, Eric ; Morgan, Kevin ; Rogaeva, Ekaterina ; Singleton, Andy ; Hardy, John ; Kamboh, M Ilyas ; George-Hyslop, Peter St ; Cairns, Nigel ; Morris, John C ; Kauwe, John S K ; Goate, Alison M

Nature (London), 2014-01, Vol.505 (7484), p.550-554 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Integrative analysis of 111 reference human epigenomes
Integrative analysis of 111 reference human epigenomes
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Integrative analysis of 111 reference human epigenomes

Kundaje, Anshul ; Meuleman, Wouter ; Ernst, Jason ; Bilenky, Misha ; Yen, Angela ; Heravi-Moussavi, Alireza ; Kheradpour, Pouya ; Zhang, Zhizhuo ; Wang, Jianrong ; Ziller, Michael J ; Amin, Viren ; Whitaker, John W ; Schultz, Matthew D ; Ward, Lucas D ; Sarkar, Abhishek ; Quon, Gerald ; Sandstrom, Richard S ; Eaton, Matthew L ; Wu, Yi-Chieh ; Pfenning, Andreas R ; Wang, Xinchen ; Claussnitzer, Melina ; Liu, Yaping ; Coarfa, Cristian ; Harris, R Alan ; Shoresh, Noam ; Epstein, Charles B ; Gjoneska, Elizabeta ; Leung, Danny ; Xie, Wei ; Hawkins, R David ; Lister, Ryan ; Hong, Chibo ; Gascard, Philippe ; Mungall, Andrew J ; Moore, Richard ; Chuah, Eric ; Tam, Angela ; Canfield, Theresa K ; Hansen, R Scott ; Kaul, Rajinder ; Sabo, Peter J ; Bansal, Mukul S ; Carles, Annaick ; Dixon, Jesse R ; Farh, Kai-How ; Feizi, Soheil ; Karlic, Rosa ; Kim, Ah-Ram ; Kulkarni, Ashwinikumar ; Li, Daofeng ; Lowdon, Rebecca ; Elliott, GiNell ; Mercer, Tim R ; Neph, Shane J ; Onuchic, Vitor ; Polak, Paz ; Rajagopal, Nisha ; Ray, Pradipta ; Sallari, Richard C ; Siebenthall, Kyle T ; Sinnott-Armstrong, Nicholas A ; Stevens, Michael ; Thurman, Robert E ; Wu, Jie ; Zhang, Bo ; Zhou, Xin ; Beaudet, Arthur E ; Boyer, Laurie A ; De Jager, Philip L ; Farnham, Peggy J ; Fisher, Susan J ; Haussler, David ; Jones, Steven J M ; Li, Wei ; Marra, Marco A ; McManus, Michael T ; Sunyaev, Shamil ; Thomson, James A ; Tlsty, Thea D ; Tsai, Li-Huei ; Wang, Wei ; Waterland, Robert A ; Zhang, Michael Q ; Chadwick, Lisa H ; Bernstein, Bradley E ; Costello, Joseph F ; Ecker, Joseph R ; Hirst, Martin ; Meissner, Alexander ; Milosavljevic, Aleksandar ; Ren, Bing ; Stamatoyannopoulos, John A ; Wang, Ting ; Kellis, Manolis

Nature (London), 2015-02, Vol.518 (7539), p.317-330 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
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Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo

Maurano, Matthew T ; Haugen, Eric ; Sandstrom, Richard ; Vierstra, Jeff ; Shafer, Anthony ; Kaul, Rajinder ; Stamatoyannopoulos, John A

Nature genetics, 2015-12, Vol.47 (12), p.1393-1401 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
A Field Guide to Eukaryotic Transposable Elements
A Field Guide to Eukaryotic Transposable Elements
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A Field Guide to Eukaryotic Transposable Elements

Wells, Jonathan N ; Feschotte, Cédric

Annual review of genetics, 2020-11, Vol.54 (1), p.539-561 [Periódico revisado por pares]

United States: Annual Reviews

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10
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, Daniel ; Kessler, Michael D ; Carlson, Jedidiah ; Taliun, Sarah A Gagliano ; Kang, Hyun Min ; Tian, Xiaowen ; Browning, Brian L ; Clarke, Wayne E ; Loesch, Douglas P ; Shetty, Amol C ; Blackwell, Thomas W ; Smith, Albert V ; Liu, Xiaoming ; Conomos, Matthew P ; Bobo, Dean M ; Aguet, François ; Arking, Dan E ; Aslibekyan, Stella ; Auer, Paul L ; Barnard, John ; Barr, R Graham ; Barwick, Lucas ; Becker, Lewis C ; Bielak, Lawrence F ; Bowden, Donald W ; Brody, Jennifer A ; Burchard, Esteban G ; Cade, Brian E ; Chasman, Daniel I ; Chen, Yii-Der Ida ; Choi, Seung Hoan ; Chung, Mina K ; Correa, Adolfo ; Curran, Joanne E ; Custer, Brian ; Daya, Michelle ; DeMeo, Dawn L ; Ellinor, Patrick T ; Eng, Celeste ; Fingerlin, Tasha ; Forer, Lukas ; Fullerton, Stephanie M ; Germer, Soren ; Gottlieb, Daniel J ; Guo, Xiuqing ; He, Jiang ; Heckbert, Susan R ; Kelly, Tanika ; Kelly, Shannon ; Kenny, Eimear E ; Klemmer, Robert ; Konkle, Barbara A ; Kooperberg, Charles ; Köttgen, Anna ; Lasky-Su, Jessica ; Levy, Daniel ; Lin, Xihong ; Liu, Chunyu ; Lubitz, Steven A ; Mak, Angel C Y ; Manichaikul, Ani ; Manning, Alisa K ; Mathias, Rasika A ; McManus, David D ; Meigs, James B ; Meyers, Deborah A ; Montasser, May E ; Montgomery, Courtney ; Morrison, Alanna C ; Murabito, Joanne M ; Nelson, Sarah C ; North, Kari E ; Peloso, Gina M ; Peyser, Patricia A ; Post, Wendy S ; Rao, D C ; Redline, Susan ; Roden, Dan ; Sarnowski, Chloé ; Schwartz, David A ; Sheehan, Vivien A ; Smith, Nicholas L ; Smith, Jennifer A ; Sotoodehnia, Nona ; Tang, Weihong ; Taylor, Kent D ; Telen, Marilyn ; Tracy, Russell P ; Vasan, Ramachandran S ; Viaud-Martinez, Karine A ; Vrieze, Scott ; Weeks, Daniel E ; Weiss, Scott T ; Gan, Weiniu ; Nickerson, Deborah A ; Browning, Sharon R ; Wilson, James G ; Laurie, Cathy C ; Hernandez, Ryan D ; Abecasis, Gonçalo R

Nature (London), 2021-02, Vol.590 (7845), p.290-299 [Periódico revisado por pares]

England: Nature Publishing Group

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