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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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2
The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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3
New genetic loci link adipose and insulin biology to body fat distribution
New genetic loci link adipose and insulin biology to body fat distribution
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New genetic loci link adipose and insulin biology to body fat distribution

Ferreira, Teresa ; Pers, Tune H ; Justice, Anne E ; Workalemahu, Tsegaselassie ; Kutalik, Zoltán ; Randall, Joshua C ; Wood, Andrew R ; Kahali, Bratati ; Ehret, Georg B ; Goel, Anuj ; Van Vliet-Ostaptchouk, Jana V ; Albrecht, Eva ; Arscott, Gillian M ; Bellis, Claire ; Böttcher, Yvonne ; Clarke, Robert ; Eklund, Niina ; Friedrich, Nele ; Giedraitis, Vilmantas ; Gigante, Bruna ; Grallert, Harald ; Grewal, Jagvir ; Hallmans, Goran ; Hayward, Caroline ; Hillege, Hans L ; Johansson, Ingegerd ; Kalafati, Ioanna-Panagiota ; Koenig, Wolfgang ; Kratzer, Wolfgang ; Lindström, Jaana ; McArdle, Wendy L ; Menni, Cristina ; Merger, Sigrun ; Mihailov, Evelin ; Mühleisen, Thomas W ; Mulas, Antonella ; Seufferlein, Thomas ; Sitlani, Colleen M ; Stirrups, Kathleen ; Stringham, Heather M ; Syvänen, Ann-Christine ; Tayo, Bamidele O ; Wennauer, Roman ; Wojczynski, Mary K ; Brennan, Eoin P ; Folkersen, Lasse ; Franco-Cereceda, Anders ; Hedman, Åsa K ; Kanoni, Stavroula ; Keildson, Sarah ; Kiryluk, Krzysztof ; Liang, Liming ; Min, Josine L ; Moffatt, Miriam F ; Schadt, Eric E ; Westra, Harm-Jan ; Zondervan, Krina T ; Franco, Oscar H ; Gudnason, Vilmundur ; Haiman, Christopher A ; Heliövaara, Markku ; Jarvelin, Marjo-Riitta ; Johansen, Berit ; Keinanen-Kiukaanniemi, Sirkka M ; Kooner, Jaspal S ; Kraja, Aldi T ; Le Marchand, Loic ; Möhlenkamp, Stefan ; Nelis, Mari ; Ohlsson, Claes ; Peters, Annette ; Ritchie, Marylyn D ; Shuldiner, Alan R ; Stolk, Ronald P ; Vollenweider, Peter ; Adair, Linda S ; Boehm, Bernhard O ; Grabe, Hans-Jörgen ; Hveem, Kristian ; Kivimaki, Mika ; Njølstad, Inger ; Oostra, Ben A ; Palmer, Colin Na ; Pérusse, Louis ; Peters, Ulrike ; Quertermous, Thomas ; Sinisalo, Juha ; Stumvoll, Michael ; Uusitupa, Matti ; Veronesi, Giovanni ; Berndt, Sonja I ; Borecki, Ingrid B ; Hunter, David J ; Thorsteinsdottir, Unnur ; Willer, Cristen J ; Hirschhorn, Joel N ; Fox, Caroline S ; Loos, Ruth Jf ; Lindgren, Cecilia M ; Mohlke, Karen L

Nature (London), 2015-02, Vol.518 (7538), p.187-196 [Periódico revisado por pares]

England: Nature Publishing Group

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4
A saturated map of common genetic variants associated with human height
A saturated map of common genetic variants associated with human height
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A saturated map of common genetic variants associated with human height

Yengo, Loïc ; Karaderi, Tugce ; Vrieze, Scott ; Alvarez, Marcus ; Arbeeva, Liubov ; Bhaskar, Seema ; Brody, Jennifer A ; Burgdorf, Kristoffer S ; Cai, Qiuyin ; Chang, Li-Ching ; Couture, Christian ; Dietl, Alexander ; Giannakopoulou, Olga ; Gjesing, Anette P ; Havulinna, Aki S ; Hindy, George ; Johansson, Ingegerd ; Jørgensen, Torben ; Kanoni, Stavroula ; Kim, Han-Na ; Le, Phuong ; Lin, Shih-Yi ; Liu, Jun ; Long, Jirong ; Mavarani, Laven ; Nakatochi, Masahiro ; Nethander, Maria ; Pandit, Anita ; Christofidou, Paraskevi ; Pyarajan, Saiju ; Rakugi, Hiromi ; Rasheed, Asif ; Raven, Dennis ; Riveros, Carlos ; Sendamarai, Anoop ; Sitlani, Colleen M ; Taylor, Kent D ; Tayo, Bamidele O ; Theusch, Elizabeth ; Vaccargiu, Simona ; van der Laan, Sander W ; Verma, Shefali S ; Veturi, Yogasudha ; Wang, Chaolong ; Bin Wei, Wen ; Wu, Yang ; Xia, Rui ; Zimmermann, Martina E ; Zoledziewska, Magdalena ; Åsvold, Bjørn Olav ; Biino, Ginevra ; Boomsma, Dorret I ; Brumpton, Ben ; Chambers, John C ; Ciullo, Marina ; Janaka de Silva, H ; Dedoussis, George V ; Feitosa, Mary F ; Ford, Ian ; Hewitt, Alex W ; Huang, Paul L ; Jukema, J Wouter ; Kang, Kui Dong ; Kessler, Thorsten ; Koh, Woon-Puay ; Lieb, Wolfgang ; Lye, Stephen J ; McGarrah, Robert W ; Mellström, Dan ; Mucci, Lorelei A ; Orozco, Lorena ; Qu, Jia ; Rader, Daniel J ; Rallidis, Loukianos S ; Rao, Dabeeru C ; Rhee, Sang Youl ; Rudan, Igor ; Schmidt, Börge ; Schmidt, Helena ; Schulze, Matthias B ; Simonsick, Eleanor M ; Singleton, Andrew B ; Stampfer, Meir J ; 't Hart, Leen M ; Timpson, Nicholas J ; Tremblay, Angelo ; Tusié-Luna, Maria-Teresa ; van der Harst, Pim ; van Schoor, Natasja M ; Widen, Elisabeth ; Willemsen, Gonneke ; Willett, Walter C ; Wilson, James F ; Yuan, Jian-Min ; Zhu, Xiaofeng ; O'Donnell, Christopher J ; Sun, Yan V ; Justice, Anne E ; Winkler, Thomas W ; Willer, Cristen J

Nature (London), 2022, Vol.610 (7933), p.704-712 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Strategic vision for improving human health at The Forefront of Genomics
Strategic vision for improving human health at The Forefront of Genomics
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Strategic vision for improving human health at The Forefront of Genomics

Green, Eric D ; Gunter, Chris ; Biesecker, Leslie G ; Di Francesco, Valentina ; Easter, Carla L ; Feingold, Elise A ; Felsenfeld, Adam L ; Kaufman, David J ; Ostrander, Elaine A ; Pavan, William J ; Phillippy, Adam M ; Wise, Anastasia L ; Dayal, Jyoti Gupta ; Kish, Britny J ; Mandich, Allison ; Wellington, Christopher R ; Wetterstrand, Kris A ; Bates, Sarah A ; Leja, Darryl ; Vasquez, Susan ; Gahl, William A ; Graham, Bettie J ; Kastner, Daniel L ; Liu, Paul ; Rodriguez, Laura Lyman ; Solomon, Benjamin D ; Bonham, Vence L ; Brody, Lawrence C ; Hutter, Carolyn M ; Manolio, Teri A

Nature (London), 2020-10, Vol.586 (7831), p.683-692 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Drift-barrier hypothesis and mutation-rate evolution
Drift-barrier hypothesis and mutation-rate evolution
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Drift-barrier hypothesis and mutation-rate evolution

Sung, Way ; Ackerman, Matthew S ; Miller, Samuel F ; Doak, Thomas G ; Lynch, Michael

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (45), p.18488-18492 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
The first near-complete assembly of the hexaploid bread wheat genome, Triticum aestivum
The first near-complete assembly of the hexaploid bread wheat genome, Triticum aestivum
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The first near-complete assembly of the hexaploid bread wheat genome, Triticum aestivum

Zimin, Aleksey V ; Puiu, Daniela ; Hall, Richard ; Kingan, Sarah ; Clavijo, Bernardo J ; Salzberg, Steven L

Gigascience, 2017-11, Vol.6 (11), p.1-7 [Periódico revisado por pares]

United States: Oxford University Press

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8
The complete sequence of a human genome
The complete sequence of a human genome
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The complete sequence of a human genome

Nurk, Sergey ; Koren, Sergey ; Rhie, Arang ; Rautiainen, Mikko ; Bzikadze, Andrey V ; Mikheenko, Alla ; Vollger, Mitchell R ; Altemose, Nicolas ; Uralsky, Lev ; Gershman, Ariel ; Aganezov, Sergey ; Hoyt, Savannah J ; Diekhans, Mark ; Logsdon, Glennis A ; Alonge, Michael ; Antonarakis, Stylianos E ; Borchers, Matthew ; Bouffard, Gerard G ; Brooks, Shelise Y ; Caldas, Gina V ; Chen, Nae-Chyun ; Cheng, Haoyu ; Chin, Chen-Shan ; Chow, William ; de Lima, Leonardo G ; Dishuck, Philip C ; Durbin, Richard ; Dvorkina, Tatiana ; Fiddes, Ian T ; Formenti, Giulio ; Fulton, Robert S ; Fungtammasan, Arkarachai ; Garrison, Erik ; Grady, Patrick G S ; Graves-Lindsay, Tina A ; Hall, Ira M ; Hansen, Nancy F ; Hartley, Gabrielle A ; Haukness, Marina ; Howe, Kerstin ; Hunkapiller, Michael W ; Jain, Chirag ; Jain, Miten ; Jarvis, Erich D ; Kerpedjiev, Peter ; Kirsche, Melanie ; Kolmogorov, Mikhail ; Korlach, Jonas ; Kremitzki, Milinn ; Li, Heng ; Maduro, Valerie V ; Marschall, Tobias ; McCartney, Ann M ; McDaniel, Jennifer ; Miller, Danny E ; Mullikin, James C ; Myers, Eugene W ; Olson, Nathan D ; Paten, Benedict ; Peluso, Paul ; Pevzner, Pavel A ; Porubsky, David ; Potapova, Tamara ; Rogaev, Evgeny I ; Rosenfeld, Jeffrey A ; Salzberg, Steven L ; Schneider, Valerie A ; Sedlazeck, Fritz J ; Shafin, Kishwar ; Shew, Colin J ; Shumate, Alaina ; Sims, Ying ; Smit, Arian F A ; Soto, Daniela C ; Sović, Ivan ; Storer, Jessica M ; Streets, Aaron ; Sullivan, Beth A ; Thibaud-Nissen, Françoise ; Torrance, James ; Wagner, Justin ; Walenz, Brian P ; Wenger, Aaron ; Wood, Jonathan M D ; Xiao, Chunlin ; Yan, Stephanie M ; Young, Alice C ; Zarate, Samantha ; Surti, Urvashi ; McCoy, Rajiv C ; Dennis, Megan Y ; Alexandrov, Ivan A ; Gerton, Jennifer L ; O'Neill, Rachel J ; Timp, Winston ; Zook, Justin M ; Schatz, Michael C ; Eichler, Evan E ; Miga, Karen H ; Phillippy, Adam M

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6588), p.44-53 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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9
Towards complete and error-free genome assemblies of all vertebrate species
Towards complete and error-free genome assemblies of all vertebrate species
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Towards complete and error-free genome assemblies of all vertebrate species

Rhie, Arang ; Fedrigo, Olivier ; Damas, Joana ; Uliano-Silva, Marcela ; Chow, William ; Fungtammasan, Arkarachai ; Kim, Juwan ; Lee, Chul ; Ko, Byung June ; Chaisson, Mark ; Gedman, Gregory L ; Thibaud-Nissen, Francoise ; Haggerty, Leanne ; Bista, Iliana ; Smith, Michelle ; Haase, Bettina ; Mountcastle, Jacquelyn ; Winkler, Sylke ; Paez, Sadye ; Howard, Jason ; Lama, Tanya M ; Grutzner, Frank ; Warren, Wesley C ; Balakrishnan, Christopher N ; Burt, Dave ; Iorns, David ; Digby, Andrew ; Eason, Daryl ; Robertson, Bruce ; Edwards, Taylor ; Wilkinson, Mark ; Turner, George ; Meyer, Axel ; Franchini, Paolo ; Detrich, 3rd, H William ; Svardal, Hannes ; Naylor, Gavin J P ; Pippel, Martin ; Malinsky, Milan ; Mooney, Mark ; Simbirsky, Maria ; Hannigan, Brett T ; Misuraca, Ann ; Kingan, Sarah B ; Hall, Richard ; Kronenberg, Zev ; Sović, Ivan ; Dunn, Christopher ; Hastie, Alex ; Lee, Joyce ; Selvaraj, Siddarth ; Green, Richard E ; Gut, Ivo ; Ghurye, Jay ; Garrison, Erik ; Sims, Ying ; Collins, Joanna ; Pelan, Sarah ; Tracey, Alan ; Wood, Jonathan ; Dagnew, Robel E ; Clayton, David F ; Mello, Claudio V ; Friedrich, Samantha R ; Lovell, Peter V ; Osipova, Ekaterina ; Al-Ajli, Farooq O ; Secomandi, Simona ; Kim, Heebal ; Hiller, Michael ; Zhou, Yang ; Makova, Kateryna D ; Medvedev, Paul ; Hoffman, Jinna ; Masterson, Patrick ; Clark, Karen ; Martin, Fergal ; Howe, Kevin ; Flicek, Paul ; Kwak, Woori ; Clawson, Hiram ; Nassar, Luis ; Paten, Benedict ; Kraus, Robert H S ; Crawford, Andrew J ; Gilbert, M Thomas P ; Zhang, Guojie ; Venkatesh, Byrappa ; Murphy, Robert W ; Johnson, Warren E ; Di Palma, Federica ; Marques-Bonet, Tomas ; Teeling, Emma C ; Graves, Jennifer Marshall ; Ryder, Oliver A ; Haussler, David ; O'Brien, Stephen J ; Lewin, Harris A ; Howe, Kerstin ; Durbin, Richard

Nature (London), 2021-04, Vol.592 (7856), p.737-746 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
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Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert, Peter ; Audano, Peter A ; Zhu, Qihui ; Rodriguez-Martin, Bernardo ; Porubsky, David ; Bonder, Marc Jan ; Sulovari, Arvis ; Ebler, Jana ; Zhou, Weichen ; Serra Mari, Rebecca ; Yilmaz, Feyza ; Zhao, Xuefang ; Hsieh, PingHsun ; Lee, Joyce ; Kumar, Sushant ; Lin, Jiadong ; Rausch, Tobias ; Chen, Yu ; Ren, Jingwen ; Santamarina, Martin ; Höps, Wolfram ; Ashraf, Hufsah ; Chuang, Nelson T ; Yang, Xiaofei ; Munson, Katherine M ; Lewis, Alexandra P ; Fairley, Susan ; Tallon, Luke J ; Clarke, Wayne E ; Basile, Anna O ; Byrska-Bishop, Marta ; Corvelo, André ; Evani, Uday S ; Lu, Tsung-Yu ; Chaisson, Mark J P ; Chen, Junjie ; Li, Chong ; Brand, Harrison ; Wenger, Aaron M ; Ghareghani, Maryam ; Harvey, William T ; Raeder, Benjamin ; Hasenfeld, Patrick ; Regier, Allison A ; Abel, Haley J ; Hall, Ira M ; Flicek, Paul ; Stegle, Oliver ; Gerstein, Mark B ; Tubio, Jose M C ; Mu, Zepeng ; Li, Yang I ; Shi, Xinghua ; Hastie, Alex R ; Ye, Kai ; Chong, Zechen ; Sanders, Ashley D ; Zody, Michael C ; Talkowski, Michael E ; Mills, Ryan E ; Devine, Scott E ; Lee, Charles ; Korbel, Jan O ; Marschall, Tobias ; Eichler, Evan E

Science (American Association for the Advancement of Science), 2021-04, Vol.372 (6537), p.48 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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