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Eric Lander

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https://www.readbyqxmd.com/read/29153835/efficient-generation-of-transcriptomic-profiles-by-random-composite-measurements
#1
Brian Cleary, Le Cong, Anthea Cheung, Eric S Lander, Aviv Regev
RNA profiles are an informative phenotype of cellular and tissue states but can be costly to generate at massive scale. Here, we describe how gene expression levels can be efficiently acquired with random composite measurements-in which abundances are combined in a random weighted sum. We show (1) that the similarity between pairs of expression profiles can be approximated with very few composite measurements; (2) that by leveraging sparse, modular representations of gene expression, we can use random composite measurements to recover high-dimensional gene expression levels (with 100 times fewer measurements than genes); and (3) that it is possible to blindly recover gene expression from composite measurements, even without access to training data...
November 13, 2017: Cell
https://www.readbyqxmd.com/read/29116687/erythropoietic-protoporphyria-in-an-adult-with-sequential-liver-and-hematopoietic-stem-cell-transplantation-a-case-report
#2
Annika L Windon, Rashmi Tondon, Nathan Singh, Samir Abu-Gazala, David L Porter, J Eric Russell, Colleen Cook, Elaine Lander, Georgeine Smith, Kim M Olthoff, Abraham Shaked, Maarouf Hoteit, Emma E Furth, Marina Serper
Erythropoieitic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resulting in the accumulation of protoporphyrins in the blood, erythrocytes, and other tissues. Because of a gene mutation in the FECH gene, ferrochelatase, the enzyme involved in the final step of heme synthesis, is deficient in these patients. While the major symptom of this disorder is photosensitivity, rarely, it can cause progressive liver disease requiring liver transplantation (LT). However, LT is not curative and only bone marrow transplantation (BMT) can correct the underlying enzymatic defect...
November 8, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/29077459/measurement-of-the-b-%C3%A2-meson-nuclear-modification-factor-in-pb-pb-collisions-at-sqrt-s_-nn-5-02%C3%A2-%C3%A2-tev
#3
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K Kiesel, K Klein, M Lipinski, M Preuten, C Schomakers, J Schulz, T Verlage, A Albert, M Brodski, E Dietz-Laursonn, D Duchardt, M Endres, M Erdmann, S Erdweg, T Esch, R Fischer, A Güth, M Hamer, T Hebbeker, C Heidemann, K Hoepfner, S Knutzen, M Merschmeyer, A Meyer, P Millet, S Mukherjee, M Olschewski, K Padeken, T Pook, M Radziej, H Reithler, M Rieger, F Scheuch, L Sonnenschein, D Teyssier, S Thüer, G Flügge, B Kargoll, T Kress, A Künsken, J Lingemann, T Müller, A Nehrkorn, A Nowack, C Pistone, O Pooth, A Stahl, M Aldaya Martin, T Arndt, C Asawatangtrakuldee, K Beernaert, O Behnke, U Behrens, A A Bin Anuar, K Borras, V Botta, A Campbell, P Connor, C Contreras-Campana, F Costanza, C Diez Pardos, G Eckerlin, D Eckstein, T Eichhorn, E Eren, E Gallo, J Garay Garcia, A Geiser, A Gizhko, J M Grados Luyando, A Grohsjean, P Gunnellini, A Harb, J Hauk, M Hempel, H Jung, A Kalogeropoulos, M Kasemann, J Keaveney, C Kleinwort, I Korol, D Krücker, W Lange, A Lelek, T Lenz, J Leonard, K Lipka, W Lohmann, R Mankel, I-A Melzer-Pellmann, A B Meyer, G Mittag, J Mnich, A Mussgiller, E Ntomari, D Pitzl, R Placakyte, A Raspereza, B Roland, M Savitskyi, P Saxena, R Shevchenko, S Spannagel, N Stefaniuk, G P Van Onsem, R Walsh, Y Wen, K Wichmann, C Wissing, S Bein, V Blobel, M Centis Vignali, A R Draeger, T Dreyer, E Garutti, D Gonzalez, J Haller, M Hoffmann, A Junkes, R Klanner, R Kogler, N Kovalchuk, S Kurz, T Lapsien, I Marchesini, D Marconi, M Meyer, M Niedziela, D Nowatschin, F Pantaleo, T Peiffer, A Perieanu, C Scharf, P Schleper, A Schmidt, S Schumann, J Schwandt, J Sonneveld, H Stadie, G Steinbrück, F M Stober, M Stöver, H Tholen, D Troendle, E Usai, L Vanelderen, A Vanhoefer, B Vormwald, M Akbiyik, C Barth, S Baur, C Baus, J Berger, E Butz, R Caspart, T Chwalek, F Colombo, W De Boer, A Dierlamm, B Freund, R Friese, M Giffels, A Gilbert, D Haitz, F Hartmann, S M Heindl, U Husemann, F Kassel, S Kudella, H Mildner, M U Mozer, Th Müller, M Plagge, G Quast, K Rabbertz, M Schröder, I Shvetsov, G Sieber, H J Simonis, R Ulrich, S Wayand, M Weber, T Weiler, S Williamson, C Wöhrmann, R Wolf, G Anagnostou, G Daskalakis, T Geralis, V A Giakoumopoulou, A Kyriakis, D Loukas, I Topsis-Giotis, S Kesisoglou, A Panagiotou, N Saoulidou, I Evangelou, G Flouris, C Foudas, P Kokkas, N Manthos, I Papadopoulos, E Paradas, J Strologas, F A Triantis, M Csanad, N Filipovic, G Pasztor, G Bencze, C Hajdu, D Horvath, F Sikler, V Veszpremi, G Vesztergombi, A J Zsigmond, N Beni, S Czellar, J Karancsi, A Makovec, J Molnar, Z Szillasi, M Bartók, P Raics, Z L Trocsanyi, B Ujvari, S Choudhury, J R Komaragiri, S Bahinipati, S Bhowmik, P Mal, K Mandal, A Nayak, D K Sahoo, N Sahoo, S K Swain, S Bansal, S B Beri, V Bhatnagar, R Chawla, N Dhingra, U Bhawandeep, A K Kalsi, A Kaur, M Kaur, R Kumar, P Kumari, A Mehta, M Mittal, J B Singh, G Walia, Ashok Kumar, Aashaq Shah, A Bhardwaj, S Chauhan, B C Choudhary, R B Garg, S Keshri, S Malhotra, M Naimuddin, K Ranjan, R Sharma, V Sharma, R Bhardwaj, R Bhattacharya, S Bhattacharya, S Dey, S Dutt, S Dutta, S Ghosh, N Majumdar, A Modak, K Mondal, S Mukhopadhyay, S Nandan, A Purohit, A Roy, D Roy, S Roy Chowdhury, S Sarkar, M Sharan, S Thakur, P K Behera, R Chudasama, D Dutta, V Jha, V Kumar, A K Mohanty, P K Netrakanti, L M Pant, P Shukla, A Topkar, T Aziz, S Dugad, B Mahakud, S Mitra, G B Mohanty, B Parida, N Sur, B Sutar, S Banerjee, S Bhattacharya, S Chatterjee, P Das, M Guchait, Sa Jain, S Kumar, M Maity, G Majumder, K Mazumdar, T Sarkar, N Wickramage, S Chauhan, S Dube, V Hegde, A Kapoor, K Kothekar, S Pandey, A Rane, S Sharma, S Chenarani, E Eskandari Tadavani, S M Etesami, M Khakzad, M Mohammadi Najafabadi, M Naseri, S Paktinat Mehdiabadi, F Rezaei Hosseinabadi, B Safarzadeh, M Zeinali, M Felcini, M Grunewald, M Abbrescia, C Calabria, C Caputo, A Colaleo, D Creanza, L Cristella, N De Filippis, M De Palma, L Fiore, G Iaselli, G Maggi, M Maggi, G Miniello, S My, S Nuzzo, A Pompili, G Pugliese, R Radogna, A Ranieri, G Selvaggi, A Sharma, L Silvestris, R Venditti, P Verwilligen, G Abbiendi, C Battilana, D Bonacorsi, S Braibant-Giacomelli, L Brigliadori, R Campanini, P Capiluppi, A Castro, F R Cavallo, S S Chhibra, M Cuffiani, G M Dallavalle, F Fabbri, A Fanfani, D Fasanella, P Giacomelli, L Guiducci, S Marcellini, G Masetti, F L Navarria, A Perrotta, A M Rossi, T Rovelli, G P Siroli, N Tosi, S Albergo, S Costa, A Di Mattia, F Giordano, R Potenza, A Tricomi, C Tuve, G Barbagli, K Chatterjee, V Ciulli, C Civinini, R D'Alessandro, E Focardi, P Lenzi, M Meschini, S Paoletti, L Russo, G Sguazzoni, D Strom, L Viliani, L Benussi, S Bianco, F Fabbri, D Piccolo, F Primavera, V Calvelli, F Ferro, E Robutti, S Tosi, L Brianza, F Brivio, V Ciriolo, M E Dinardo, S Fiorendi, S Gennai, A Ghezzi, P Govoni, M Malberti, S Malvezzi, R A Manzoni, D Menasce, L Moroni, M Paganoni, K Pauwels, D Pedrini, S Pigazzini, S Ragazzi, T Tabarelli de Fatis, S Buontempo, N Cavallo, S Di Guida, M Esposito, F Fabozzi, F Fienga, A O M Iorio, W A Khan, G Lanza, L Lista, S Meola, P Paolucci, C Sciacca, F Thyssen, P Azzi, N Bacchetta, L Benato, D Bisello, A Boletti, R Carlin, A Carvalho Antunes De Oliveira, M Dall'Osso, P De Castro Manzano, T Dorigo, F Gasparini, U Gasparini, A Gozzelino, S Lacaprara, M Margoni, A T Meneguzzo, D Pantano, N Pozzobon, P Ronchese, R Rossin, M Sgaravatto, F Simonetto, E Torassa, S Ventura, M Zanetti, P Zotto, A Braghieri, F Fallavollita, A Magnani, P Montagna, S P Ratti, V Re, M Ressegotti, C Riccardi, P Salvini, I Vai, P Vitulo, L Alunni Solestizi, G M Bilei, D Ciangottini, L Fanò, P Lariccia, R Leonardi, G Mantovani, V Mariani, M Menichelli, A Saha, A Santocchia, D Spiga, K Androsov, P Azzurri, G Bagliesi, J Bernardini, T Boccali, L Borrello, R Castaldi, M A Ciocci, R Dell'Orso, G Fedi, A Giassi, M T Grippo, F Ligabue, T Lomtadze, L Martini, A Messineo, F Palla, A Rizzi, A Savoy-Navarro, P Spagnolo, R Tenchini, G Tonelli, A Venturi, P G Verdini, L Barone, F Cavallari, M Cipriani, D Del Re, M Diemoz, S Gelli, E Longo, F Margaroli, B Marzocchi, P Meridiani, G Organtini, R Paramatti, F Preiato, S Rahatlou, C Rovelli, F Santanastasio, N Amapane, R Arcidiacono, S Argiro, M Arneodo, N Bartosik, R Bellan, C Biino, N Cartiglia, F Cenna, M Costa, R Covarelli, A Degano, N Demaria, B Kiani, C Mariotti, S Maselli, E Migliore, V Monaco, E Monteil, M Monteno, M M Obertino, L Pacher, N Pastrone, M Pelliccioni, G L Pinna Angioni, F Ravera, A Romero, M Ruspa, R Sacchi, K Shchelina, V Sola, A Solano, A Staiano, P Traczyk, S Belforte, M Casarsa, F Cossutti, G Della Ricca, A Zanetti, D H Kim, G N Kim, M S Kim, J Lee, S Lee, S W Lee, Y D Oh, S Sekmen, D C Son, Y C Yang, A Lee, H Kim, D H Moon, J A Brochero Cifuentes, J Goh, T J Kim, S Cho, S Choi, Y Go, D Gyun, S Ha, B Hong, Y Jo, Y Kim, K Lee, K S Lee, S Lee, J Lim, S K Park, Y Roh, J Almond, J Kim, H Lee, S B Oh, B C Radburn-Smith, S H Seo, U K Yang, H D Yoo, G B Yu, M Choi, H Kim, J H Kim, J S H Lee, I C Park, G Ryu, Y Choi, C Hwang, J Lee, 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Karjavin, A Lanev, A Malakhov, V Matveev, V Palichik, V Perelygin, S Shmatov, S Shulha, N Skatchkov, V Smirnov, N Voytishin, A Zarubin, Y Ivanov, V Kim, E Kuznetsova, P Levchenko, V Murzin, V Oreshkin, I Smirnov, V Sulimov, L Uvarov, S Vavilov, A Vorobyev, Yu Andreev, A Dermenev, S Gninenko, N Golubev, A Karneyeu, M Kirsanov, N Krasnikov, A Pashenkov, D Tlisov, A Toropin, V Epshteyn, V Gavrilov, N Lychkovskaya, V Popov, I Pozdnyakov, G Safronov, A Spiridonov, M Toms, E Vlasov, A Zhokin, T Aushev, A Bylinkin, R Chistov, M Danilov, S Polikarpov, V Andreev, M Azarkin, I Dremin, M Kirakosyan, A Terkulov, A Baskakov, A Belyaev, E Boos, A Demiyanov, A Ershov, A Gribushin, O Kodolova, V Korotkikh, I Lokhtin, I Miagkov, S Obraztsov, S Petrushanko, V Savrin, A Snigirev, I Vardanyan, V Blinov, Y Skovpen, D Shtol, I Azhgirey, I Bayshev, S Bitioukov, D Elumakhov, V Kachanov, A Kalinin, D Konstantinov, V Krychkine, V Petrov, R Ryutin, A Sobol, S Troshin, N Tyurin, A Uzunian, A Volkov, P Adzic, P 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d'Enterria, A Dabrowski, V Daponte, A David, M De Gruttola, A De Roeck, E Di Marco, M Dobson, B Dorney, T du Pree, M Dünser, N Dupont, A Elliott-Peisert, P Everaerts, G Franzoni, J Fulcher, W Funk, D Gigi, K Gill, F Glege, D Gulhan, S Gundacker, M Guthoff, P Harris, J Hegeman, V Innocente, P Janot, O Karacheban, J Kieseler, H Kirschenmann, V Knünz, A Kornmayer, M J Kortelainen, C Lange, P Lecoq, C Lourenço, M T Lucchini, L Malgeri, M Mannelli, A Martelli, F Meijers, J A Merlin, S Mersi, E Meschi, P Milenovic, F Moortgat, M Mulders, H Neugebauer, S Orfanelli, L Orsini, L Pape, E Perez, M Peruzzi, A Petrilli, G Petrucciani, A Pfeiffer, M Pierini, A Racz, T Reis, G Rolandi, M Rovere, H Sakulin, J B Sauvan, C Schäfer, C Schwick, M Seidel, A Sharma, P Silva, P Sphicas, J Steggemann, M Stoye, M Tosi, D Treille, A Triossi, A Tsirou, V Veckalns, G I Veres, M Verweij, N Wardle, A Zagozdzinska, W D Zeuner, W Bertl, K Deiters, W Erdmann, R Horisberger, Q Ingram, H C Kaestli, D Kotlinski, U 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Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
The differential production cross sections of B^{±} mesons are measured via the exclusive decay channels B^{±}→J/ψK^{±}→μ^{+}μ^{-}K^{±} as a function of transverse momentum in pp and Pb-Pb collisions at a center-of-mass energy sqrt[s_{NN}]=5.02  TeV per nucleon pair with the CMS detector at the LHC. The pp(Pb-Pb) data set used for this analysis corresponds to an integrated luminosity of 28.0  pb^{-1} (351  μb^{-1}). The measurement is performed in the B^{±} meson transverse momentum range of 7 to 50  GeV/c, in the rapidity interval |y|<2...
October 13, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29077436/search-for-supersymmetry-in-pp-collisions-at-sqrt-s-13%C3%A2-%C3%A2-tev-in-the-single-lepton-final-state-using-the-sum-of-masses-of-large-radius-jets
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Guio, P R Dudero, J Faulkner, E Gurpinar, S Kunori, K Lamichhane, S W Lee, T Libeiro, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, X Sun, Y Wang, E Wolfe, F Xia, C Clarke, R Harr, P E Karchin, J Sturdy, S Zaleski, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
Results are reported from a search for supersymmetric particles in proton-proton collisions in the final state with a single lepton, multiple jets, including at least one b-tagged jet, and large missing transverse momentum. The search uses a sample of proton-proton collision data at sqrt[s]=13  TeV recorded by the CMS experiment at the LHC, corresponding to an integrated luminosity of 35.9  fb^{-1}. The observed event yields in the signal regions are consistent with those expected from standard model backgrounds...
October 13, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29053305/search-for-charged-higgs-bosons-produced-via-vector-boson-fusion-and-decaying-into-a-pair-of-w-and-z-bosons-using-pp-collisions-at-sqrt-s-13%C3%A2-%C3%A2-tev
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Y Yang, A Zucchetta, V Candelise, T H Doan, Sh Jain, R Khurana, M Konyushikhin, C M Kuo, W Lin, A Pozdnyakov, S S Yu, Arun Kumar, P Chang, Y H Chang, Y Chao, K F Chen, P H Chen, F Fiori, W-S Hou, Y Hsiung, Y F Liu, R-S Lu, M Miñano Moya, E Paganis, A Psallidas, J F Tsai, B Asavapibhop, G Singh, N Srimanobhas, N Suwonjandee, A Adiguzel, F Boran, S Cerci, S Damarseckin, Z S Demiroglu, C Dozen, I Dumanoglu, S Girgis, G Gokbulut, Y Guler, I Hos, E E Kangal, O Kara, A Kayis Topaksu, U Kiminsu, M Oglakci, G Onengut, K Ozdemir, D Sunar Cerci, H Topakli, S Turkcapar, I S Zorbakir, C Zorbilmez, B Bilin, B Isildak, G Karapinar, M Yalvac, M Zeyrek, E Gülmez, M Kaya, O Kaya, E A Yetkin, T Yetkin, A Cakir, K Cankocak, S Sen, B Grynyov, L Levchuk, P Sorokin, R Aggleton, F Ball, L Beck, J J Brooke, D Burns, E Clement, D Cussans, H Flacher, J Goldstein, M Grimes, G P Heath, H F Heath, J Jacob, L Kreczko, C Lucas, D M Newbold, S Paramesvaran, A Poll, T Sakuma, S Seif El Nasr-Storey, D Smith, V J Smith, K W Bell, A Belyaev, C Brew, R M Brown, L Calligaris, D Cieri, D J A Cockerill, J A Coughlan, K Harder, S Harper, E Olaiya, D Petyt, C H Shepherd-Themistocleous, A Thea, I R Tomalin, T Williams, M Baber, R Bainbridge, O Buchmuller, A Bundock, S Casasso, M Citron, D Colling, L Corpe, P Dauncey, G Davies, A De Wit, M Della Negra, R Di Maria, P Dunne, A Elwood, D Futyan, Y Haddad, G Hall, G Iles, T James, R Lane, C Laner, L Lyons, A-M Magnan, S Malik, L Mastrolorenzo, J Nash, A Nikitenko, J Pela, B Penning, M Pesaresi, D M Raymond, A Richards, A Rose, E Scott, C Seez, S Summers, A Tapper, K Uchida, M Vazquez Acosta, T Virdee, J Wright, S C Zenz, J E Cole, P R Hobson, A Khan, P Kyberd, I D Reid, P Symonds, L Teodorescu, M Turner, A Borzou, K Call, J Dittmann, K Hatakeyama, H Liu, N Pastika, R Bartek, A Dominguez, A Buccilli, S I Cooper, C Henderson, P Rumerio, C West, D Arcaro, A Avetisyan, T Bose, D Gastler, D Rankin, C Richardson, J Rohlf, L Sulak, D Zou, G Benelli, D Cutts, A Garabedian, J Hakala, U Heintz, J M Hogan, O Jesus, K H M Kwok, E Laird, G Landsberg, Z Mao, M Narain, S Piperov, S Sagir, E Spencer, R Syarif, R Breedon, D Burns, M Calderon De La Barca Sanchez, S Chauhan, M Chertok, J Conway, R Conway, P T Cox, R Erbacher, C Flores, G Funk, M Gardner, W Ko, R Lander, C Mclean, M Mulhearn, D Pellett, J Pilot, S Shalhout, M Shi, J Smith, M Squires, D Stolp, K Tos, M Tripathi, M Bachtis, C Bravo, R Cousins, A Dasgupta, A Florent, J Hauser, M Ignatenko, N Mccoll, D Saltzberg, C Schnaible, V Valuev, M Weber, E Bouvier, K Burt, R Clare, J Ellison, J W Gary, S M A Ghiasi Shirazi, G Hanson, J Heilman, P Jandir, E Kennedy, F Lacroix, O R Long, M Olmedo Negrete, M I Paneva, A Shrinivas, W Si, H Wei, S Wimpenny, B R Yates, J G Branson, G B Cerati, S Cittolin, M Derdzinski, R Gerosa, A Holzner, D Klein, V Krutelyov, J Letts, I Macneill, D Olivito, S Padhi, M Pieri, M Sani, V Sharma, S Simon, M Tadel, A Vartak, S Wasserbaech, C Welke, J Wood, F Würthwein, A Yagil, G Zevi Della Porta, N Amin, R Bhandari, J Bradmiller-Feld, C Campagnari, A Dishaw, V Dutta, M Franco Sevilla, C George, F Golf, L Gouskos, J Gran, R Heller, J Incandela, S D Mullin, A Ovcharova, H Qu, J Richman, D Stuart, I Suarez, J Yoo, D Anderson, J Bendavid, A Bornheim, J Bunn, J M Lawhorn, A Mott, H B Newman, C Pena, M Spiropulu, J R Vlimant, S Xie, R Y Zhu, M B Andrews, T Ferguson, M Paulini, J Russ, M Sun, H Vogel, I Vorobiev, M Weinberg, J P Cumalat, W T Ford, F Jensen, A Johnson, M Krohn, S Leontsinis, T Mulholland, K Stenson, S R Wagner, J Alexander, J Chaves, J Chu, S Dittmer, K Mcdermott, N Mirman, J R Patterson, A Rinkevicius, A Ryd, L Skinnari, L Soffi, S M Tan, Z Tao, J Thom, J Tucker, P Wittich, M Zientek, D Winn, S Abdullin, M Albrow, G Apollinari, A Apresyan, S Banerjee, L A T Bauerdick, A Beretvas, J Berryhill, P C Bhat, G Bolla, K Burkett, J N Butler, H W K Cheung, F Chlebana, S Cihangir, M Cremonesi, J Duarte, V D Elvira, I Fisk, J Freeman, E Gottschalk, L Gray, D Green, S Grünendahl, O Gutsche, R M Harris, S Hasegawa, J Hirschauer, Z Hu, B Jayatilaka, S Jindariani, M Johnson, U Joshi, B Klima, B Kreis, S Lammel, J Linacre, D Lincoln, R Lipton, M Liu, T Liu, R Lopes De Sá, J Lykken, K Maeshima, N Magini, J M Marraffino, S Maruyama, D Mason, P McBride, P Merkel, S Mrenna, S Nahn, V O'Dell, K Pedro, O Prokofyev, G Rakness, L Ristori, E Sexton-Kennedy, A Soha, W J Spalding, L Spiegel, S Stoynev, J Strait, N Strobbe, L Taylor, S Tkaczyk, N V Tran, L Uplegger, E W Vaandering, C Vernieri, M Verzocchi, R Vidal, M Wang, H A Weber, A Whitbeck, Y Wu, D Acosta, P Avery, P Bortignon, D Bourilkov, A Brinkerhoff, A Carnes, M Carver, D Curry, S Das, R D Field, I K Furic, J Konigsberg, A Korytov, J F Low, P Ma, K Matchev, H Mei, G Mitselmakher, D Rank, L Shchutska, D Sperka, L Thomas, J Wang, S Wang, J Yelton, S Linn, P Markowitz, G Martinez, J L Rodriguez, A Ackert, T Adams, A Askew, S Bein, S Hagopian, V Hagopian, K F Johnson, T Kolberg, T Perry, H Prosper, A Santra, R Yohay, M M Baarmand, V Bhopatkar, S Colafranceschi, M Hohlmann, D Noonan, T Roy, F Yumiceva, M R Adams, L Apanasevich, D Berry, R R Betts, R Cavanaugh, X Chen, O Evdokimov, C E Gerber, D A Hangal, D J Hofman, K Jung, J Kamin, I D Sandoval Gonzalez, H Trauger, N Varelas, H Wang, Z Wu, J Zhang, B Bilki, W Clarida, K Dilsiz, S Durgut, R P Gandrajula, M Haytmyradov, V Khristenko, J-P Merlo, H Mermerkaya, A Mestvirishvili, A Moeller, J Nachtman, H Ogul, Y Onel, F Ozok, A Penzo, C Snyder, E Tiras, J Wetzel, K Yi, B Blumenfeld, A Cocoros, N Eminizer, D Fehling, L Feng, A V Gritsan, P Maksimovic, J Roskes, U Sarica, M Swartz, M Xiao, C You, A Al-Bataineh, P Baringer, A Bean, S Boren, J Bowen, J Castle, L Forthomme, S Khalil, A Kropivnitskaya, D Majumder, W Mcbrayer, M Murray, S Sanders, R Stringer, J D Tapia Takaki, Q Wang, A Ivanov, K Kaadze, Y Maravin, A Mohammadi, L K Saini, N Skhirtladze, S Toda, F Rebassoo, D Wright, C Anelli, A Baden, O Baron, A Belloni, B Calvert, S C Eno, C Ferraioli, N J Hadley, S Jabeen, G Y Jeng, R G Kellogg, J Kunkle, A C Mignerey, F Ricci-Tam, Y H Shin, A Skuja, M B Tonjes, S C Tonwar, D Abercrombie, B Allen, A Apyan, V Azzolini, R Barbieri, A Baty, R Bi, K Bierwagen, S Brandt, W Busza, I A Cali, M D'Alfonso, Z Demiragli, G Gomez Ceballos, M Goncharov, D Hsu, Y Iiyama, G M Innocenti, M Klute, D Kovalskyi, K Krajczar, Y S Lai, Y-J Lee, A Levin, P D Luckey, B Maier, A C Marini, C Mcginn, C Mironov, S Narayanan, X Niu, C Paus, C Roland, G Roland, J Salfeld-Nebgen, G S F Stephans, K Tatar, D Velicanu, J Wang, T W Wang, B Wyslouch, A C Benvenuti, R M Chatterjee, A Evans, P Hansen, S Kalafut, S C Kao, Y Kubota, Z Lesko, J Mans, S Nourbakhsh, N Ruckstuhl, R Rusack, N Tambe, J Turkewitz, J G Acosta, S Oliveros, E Avdeeva, K Bloom, D R Claes, C Fangmeier, R Gonzalez Suarez, R Kamalieddin, I Kravchenko, A Malta Rodrigues, J Monroy, J E Siado, G R Snow, B Stieger, M Alyari, J Dolen, A Godshalk, C Harrington, I Iashvili, D Nguyen, A Parker, S Rappoccio, B Roozbahani, G Alverson, E Barberis, A Hortiangtham, A Massironi, D M Morse, D Nash, T Orimoto, R Teixeira De Lima, D Trocino, R-J Wang, D Wood, S Bhattacharya, O Charaf, K A Hahn, N Mucia, N Odell, B Pollack, M H Schmitt, K Sung, M Trovato, M Velasco, N Dev, M Hildreth, K Hurtado Anampa, C Jessop, D J Karmgard, N Kellams, K Lannon, N Marinelli, F Meng, C Mueller, Y Musienko, M Planer, A Reinsvold, R Ruchti, N Rupprecht, G Smith, S Taroni, M Wayne, M Wolf, A Woodard, J Alimena, L Antonelli, B Bylsma, L S Durkin, S Flowers, B Francis, A Hart, C Hill, W Ji, B Liu, W Luo, D Puigh, B L Winer, H W Wulsin, S Cooperstein, O Driga, P Elmer, J Hardenbrook, P Hebda, D Lange, J Luo, D Marlow, T Medvedeva, K Mei, I Ojalvo, J Olsen, C Palmer, P Piroué, D Stickland, A Svyatkovskiy, C Tully, S Malik, A Barker, V E Barnes, S Folgueras, L Gutay, M K Jha, M Jones, A W Jung, A Khatiwada, D H Miller, N Neumeister, J F Schulte, J Sun, F Wang, W Xie, N Parashar, J Stupak, A Adair, B Akgun, Z Chen, K M Ecklund, F J M Geurts, M Guilbaud, W Li, B Michlin, M Northup, B P Padley, J Roberts, J Rorie, Z Tu, J Zabel, B Betchart, A Bodek, P de Barbaro, R Demina, Y T Duh, T Ferbel, M Galanti, A Garcia-Bellido, J Han, O Hindrichs, A Khukhunaishvili, K H Lo, P Tan, M Verzetti, A Agapitos, J P Chou, Y Gershtein, T A Gómez Espinosa, E Halkiadakis, M Heindl, E Hughes, S Kaplan, R Kunnawalkam Elayavalli, S Kyriacou, A Lath, R Montalvo, K Nash, M Osherson, H Saka, S Salur, S Schnetzer, D Sheffield, S Somalwar, R Stone, S Thomas, P Thomassen, M Walker, A G Delannoy, M Foerster, J Heideman, G Riley, K Rose, S Spanier, K Thapa, O Bouhali, A Celik, M Dalchenko, M De Mattia, A Delgado, S Dildick, R Eusebi, J Gilmore, T Huang, E Juska, T Kamon, R Mueller, Y Pakhotin, R Patel, A Perloff, L Perniè, D Rathjens, A Safonov, A Tatarinov, K A Ulmer, N Akchurin, J Damgov, F De Guio, C Dragoiu, P R Dudero, J Faulkner, E Gurpinar, S Kunori, K Lamichhane, S W Lee, T Libeiro, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, X Sun, Y Wang, E Wolfe, F Xia, C Clarke, R Harr, P E Karchin, J Sturdy, S Zaleski, D A Belknap, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
A search for charged Higgs bosons produced via vector boson fusion and decaying into W and Z bosons using proton-proton collisions at sqrt[s]=13  TeV is presented. The data sample corresponds to an integrated luminosity of 15.2  fb^{-1} collected with the CMS detector in 2015 and 2016. The event selection requires three leptons (electrons or muons), two jets with large pseudorapidity separation and high dijet mass, and missing transverse momentum. The observation agrees with the standard model prediction...
October 6, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28985562/cohesin-loss-eliminates-all-loop-domains
#6
Suhas S P Rao, Su-Chen Huang, Brian Glenn St Hilaire, Jesse M Engreitz, Elizabeth M Perez, Kyong-Rim Kieffer-Kwon, Adrian L Sanborn, Sarah E Johnstone, Gavin D Bascom, Ivan D Bochkov, Xingfan Huang, Muhammad S Shamim, Jaeweon Shin, Douglass Turner, Ziyi Ye, Arina D Omer, James T Robinson, Tamar Schlick, Bradley E Bernstein, Rafael Casellas, Eric S Lander, Erez Lieberman Aiden
The human genome folds to create thousands of intervals, called "contact domains," that exhibit enhanced contact frequency within themselves. "Loop domains" form because of tethering between two loci-almost always bound by CTCF and cohesin-lying on the same chromosome. "Compartment domains" form when genomic intervals with similar histone marks co-segregate. Here, we explore the effects of degrading cohesin. All loop domains are eliminated, but neither compartment domains nor histone marks are affected. Loss of loop domains does not lead to widespread ectopic gene activation but does affect a significant minority of active genes...
October 5, 2017: Cell
https://www.readbyqxmd.com/read/28976959/rna-targeting-with-crispr-cas13
#7
Omar O Abudayyeh, Jonathan S Gootenberg, Patrick Essletzbichler, Shuo Han, Julia Joung, Joseph J Belanto, Vanessa Verdine, David B T Cox, Max J Kellner, Aviv Regev, Eric S Lander, Daniel F Voytas, Alice Y Ting, Feng Zhang
RNA has important and diverse roles in biology, but molecular tools to manipulate and measure it are limited. For example, RNA interference can efficiently knockdown RNAs, but it is prone to off-target effects, and visualizing RNAs typically relies on the introduction of exogenous tags. Here we demonstrate that the class 2 type VI RNA-guided RNA-targeting CRISPR-Cas effector Cas13a (previously known as C2c2) can be engineered for mammalian cell RNA knockdown and binding. After initial screening of 15 orthologues, we identified Cas13a from Leptotrichia wadei (LwaCas13a) as the most effective in an interference assay in Escherichia coli...
October 12, 2017: Nature
https://www.readbyqxmd.com/read/28949210/search-for-low-mass-vector-resonances-decaying-to-quark-antiquark-pairs-in-proton-proton-collisions-at-sqrt-s-13%C3%A2-%C3%A2-tev
#8
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Vannerom, R Yonamine, F Zenoni, F Zhang, A Cimmino, T Cornelis, D Dobur, A Fagot, M Gul, I Khvastunov, D Poyraz, C Roskas, S Salva, M Tytgat, W Verbeke, N Zaganidis, H Bakhshiansohi, O Bondu, S Brochet, G Bruno, A Caudron, S De Visscher, C Delaere, M Delcourt, B Francois, A Giammanco, A Jafari, M Komm, G Krintiras, V Lemaitre, A Magitteri, A Mertens, M Musich, K Piotrzkowski, L Quertenmont, M Vidal Marono, S Wertz, N Beliy, W L Aldá Júnior, F L Alves, G A Alves, L Brito, M Correa Martins Junior, C Hensel, A Moraes, M E Pol, P Rebello Teles, E Belchior Batista Das Chagas, W Carvalho, J Chinellato, A Custódio, E M Da Costa, G G Da Silveira, D De Jesus Damiao, S Fonseca De Souza, L M Huertas Guativa, H Malbouisson, M Melo De Almeida, C Mora Herrera, L Mundim, H Nogima, A Santoro, A Sznajder, E J Tonelli Manganote, F Torres Da Silva De Araujo, A Vilela Pereira, S Ahuja, C A Bernardes, T R Fernandez Perez Tomei, E M Gregores, P G Mercadante, S F Novaes, Sandra S Padula, D Romero Abad, J C Ruiz Vargas, A Aleksandrov, R Hadjiiska, P Iaydjiev, M Misheva, M Rodozov, M Shopova, S Stoykova, G Sultanov, A Dimitrov, I Glushkov, L Litov, B Pavlov, P Petkov, W Fang, X Gao, M Ahmad, J G Bian, G M Chen, H S Chen, M Chen, Y Chen, C H Jiang, D Leggat, Z Liu, F Romeo, S M Shaheen, A Spiezia, J Tao, C Wang, Z Wang, E Yazgan, H Zhang, J Zhao, Y Ban, G Chen, Q Li, S Liu, Y Mao, S J Qian, D Wang, Z Xu, C Avila, A Cabrera, L F Chaparro Sierra, C Florez, C F González Hernández, J D Ruiz Alvarez, B Courbon, N Godinovic, D Lelas, I Puljak, P M Ribeiro Cipriano, T Sculac, Z Antunovic, M Kovac, V Brigljevic, D Ferencek, K Kadija, B Mesic, T Susa, M W Ather, A Attikis, G Mavromanolakis, J Mousa, C Nicolaou, F Ptochos, P A Razis, H Rykaczewski, M Finger, M Finger, E Carrera Jarrin, A A Abdelalim, Y Mohammed, E Salama, R K Dewanjee, M Kadastik, L Perrini, M Raidal, A Tiko, C Veelken, P Eerola, J Pekkanen, M Voutilainen, J Härkönen, T Järvinen, V Karimäki, R Kinnunen, T Lampén, K Lassila-Perini, S Lehti, T Lindén, P Luukka, E Tuominen, J Tuominiemi, E Tuovinen, J Talvitie, T Tuuva, M Besancon, F Couderc, M Dejardin, D Denegri, J L Faure, F Ferri, S Ganjour, S Ghosh, A Givernaud, P Gras, G Hamel de Monchenault, P Jarry, I Kucher, E Locci, M Machet, J Malcles, G Negro, J Rander, A Rosowsky, M Ö Sahin, M Titov, A Abdulsalam, I Antropov, S Baffioni, F Beaudette, P Busson, L Cadamuro, C Charlot, R Granier de Cassagnac, M Jo, S Lisniak, A Lobanov, J Martin Blanco, M Nguyen, C Ochando, G Ortona, P Paganini, P Pigard, S Regnard, R Salerno, J B Sauvan, Y Sirois, A G Stahl Leiton, T Strebler, Y Yilmaz, A Zabi, A Zghiche, J-L Agram, J Andrea, D Bloch, J-M Brom, M Buttignol, E C Chabert, N Chanon, C Collard, E Conte, X Coubez, J-C Fontaine, D Gelé, U Goerlach, M Jansová, A-C Le Bihan, N Tonon, P Van Hove, S Gadrat, S Beauceron, C Bernet, G Boudoul, R Chierici, D Contardo, P Depasse, H El Mamouni, J Fay, L Finco, S Gascon, M Gouzevitch, G Grenier, B Ille, F Lagarde, I B Laktineh, M 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Kunori, K Lamichhane, S W Lee, T Libeiro, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, X Sun, Y Wang, E Wolfe, F Xia, C Clarke, R Harr, P E Karchin, J Sturdy, S Zaleski, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
A search is reported for a narrow vector resonance decaying to quark-antiquark pairs in proton-proton collisions at sqrt[s]=13  TeV, collected with the CMS detector at the LHC. The data sample corresponds to an integrated luminosity of 2.7   fb^{-1}. The vector resonance is produced at large transverse momenta, with its decay products merged into a single jet. The resulting signature is a peak over background in the distribution of the invariant mass of the jet. The results are interpreted in the framework of a leptophobic vector resonance and no evidence is found for such particles in the mass range of 100-300 GeV...
September 15, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28943791/measurement-of-double-differential-cross-sections-for-top-quark-pair-production-in-pp-collisions-at-formula-see-text-formula-see-text-and-impact-on-parton-distribution-functions
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Walczak, P Bargassa, C Beirão Da Cruz E Silva, B Calpas, A Di Francesco, P Faccioli, M Gallinaro, J Hollar, N Leonardo, L Lloret Iglesias, M V Nemallapudi, J Seixas, O Toldaiev, D Vadruccio, J Varela, S Afanasiev, P Bunin, M Gavrilenko, I Golutvin, I Gorbunov, A Kamenev, V Karjavin, A Lanev, A Malakhov, V Matveev, V Palichik, V Perelygin, S Shmatov, S Shulha, N Skatchkov, V Smirnov, N Voytishin, A Zarubin, L Chtchipounov, V Golovtsov, Y Ivanov, V Kim, E Kuznetsova, V Murzin, V Oreshkin, V Sulimov, A Vorobyev, Yu Andreev, A Dermenev, S Gninenko, N Golubev, A Karneyeu, M Kirsanov, N Krasnikov, A Pashenkov, D Tlisov, A Toropin, V Epshteyn, V Gavrilov, N Lychkovskaya, V Popov, I Pozdnyakov, G Safronov, A Spiridonov, M Toms, E Vlasov, A Zhokin, T Aushev, A Bylinkin, M Danilov, E Popova, V Rusinov, V Andreev, M Azarkin, I Dremin, M Kirakosyan, A Leonidov, A Terkulov, A Baskakov, A Belyaev, E Boos, V Bunichev, M Dubinin, L Dudko, A Ershov, V Klyukhin, N Korneeva, I Lokhtin, I Miagkov, S Obraztsov, M Perfilov, V Savrin, P Volkov, V Blinov, Y Skovpen, D Shtol, I Azhgirey, I Bayshev, S Bitioukov, D Elumakhov, V Kachanov, A Kalinin, D Konstantinov, V Krychkine, V Petrov, R Ryutin, A Sobol, S Troshin, N Tyurin, A Uzunian, A Volkov, P Adzic, P Cirkovic, D Devetak, M Dordevic, J Milosevic, V Rekovic, J Alcaraz Maestre, M Barrio Luna, E Calvo, M Cerrada, M Chamizo Llatas, N Colino, B De La Cruz, A Delgado Peris, A Escalante Del Valle, C Fernandez Bedoya, J P Fernández Ramos, J Flix, M C Fouz, P Garcia-Abia, O Gonzalez Lopez, S Goy Lopez, J M Hernandez, M I Josa, E Navarro De Martino, A Pérez-Calero Yzquierdo, J Puerta Pelayo, A Quintario Olmeda, I Redondo, L Romero, M S Soares, J F de Trocóniz, M Missiroli, D Moran, J Cuevas, C Erice, J Fernandez Menendez, I Gonzalez Caballero, J R González Fernández, E Palencia Cortezon, S Sanchez Cruz, I Suárez Andrés, P Vischia, J M Vizan Garcia, I J Cabrillo, A Calderon, E Curras, M Fernandez, J Garcia-Ferrero, G Gomez, A Lopez Virto, J Marco, C Martinez Rivero, F Matorras, J Piedra Gomez, T Rodrigo, A Ruiz-Jimeno, L Scodellaro, N Trevisani, I Vila, R Vilar Cortabitarte, D Abbaneo, E Auffray, G Auzinger, P Baillon, A H Ball, D Barney, P Bloch, A Bocci, C Botta, T Camporesi, R Castello, M Cepeda, G Cerminara, Y Chen, A Cimmino, D d'Enterria, A Dabrowski, V Daponte, A David, M De Gruttola, A De Roeck, E Di Marco, M Dobson, B Dorney, T du Pree, D Duggan, M Dünser, N Dupont, A Elliott-Peisert, P Everaerts, S Fartoukh, G Franzoni, J Fulcher, W Funk, D Gigi, K Gill, M Girone, F Glege, D Gulhan, S Gundacker, M Guthoff, P Harris, J Hegeman, V Innocente, P Janot, J Kieseler, H Kirschenmann, V Knünz, A Kornmayer, M J Kortelainen, M Krammer, C Lange, P Lecoq, C Lourenço, M T Lucchini, L Malgeri, M Mannelli, A Martelli, F Meijers, J A Merlin, S Mersi, E Meschi, P Milenovic, F Moortgat, S Morovic, M Mulders, H Neugebauer, S Orfanelli, L Orsini, L Pape, E Perez, M Peruzzi, A Petrilli, G Petrucciani, A Pfeiffer, M Pierini, A Racz, T Reis, G Rolandi, M Rovere, H Sakulin, J B Sauvan, C Schäfer, C Schwick, M Seidel, A Sharma, P Silva, P Sphicas, J Steggemann, M Stoye, Y Takahashi, M Tosi, D Treille, A Triossi, A Tsirou, V Veckalns, G I Veres, M Verweij, N Wardle, H K Wöhri, A Zagozdzinska, W D Zeuner, W Bertl, K Deiters, W Erdmann, R Horisberger, Q Ingram, H C Kaestli, D Kotlinski, U Langenegger, T Rohe, S A Wiederkehr, F Bachmair, L Bäni, L Bianchini, B Casal, G Dissertori, M Dittmar, M Donegà, C Grab, C Heidegger, D Hits, J Hoss, G Kasieczka, W Lustermann, B Mangano, M Marionneau, P Martinez Ruiz Del Arbol, M Masciovecchio, M T Meinhard, D Meister, F Micheli, P Musella, F Nessi-Tedaldi, F Pandolfi, J Pata, F Pauss, G Perrin, L Perrozzi, M Quittnat, M Rossini, M Schönenberger, A Starodumov, V R Tavolaro, K Theofilatos, R Wallny, T K Aarrestad, C Amsler, L Caminada, M F Canelli, A De Cosa, S Donato, C Galloni, A Hinzmann, T Hreus, B Kilminster, J Ngadiuba, D Pinna, G Rauco, P Robmann, D Salerno, C Seitz, Y Yang, A Zucchetta, V Candelise, T H Doan, Sh Jain, R Khurana, M Konyushikhin, C M Kuo, W Lin, A Pozdnyakov, S S Yu, Arun Kumar, P Chang, Y H Chang, Y Chao, K F Chen, P H Chen, F Fiori, W-S Hou, Y Hsiung, Y F Liu, R-S Lu, M Miñano Moya, E Paganis, A Psallidas, J F Tsai, B Asavapibhop, G Singh, N Srimanobhas, N Suwonjandee, A Adiguzel, F Boran, S Cerci, S Damarseckin, Z S Demiroglu, C Dozen, I Dumanoglu, S Girgis, G Gokbulut, Y Guler, I Hos, E E Kangal, O Kara, U Kiminsu, M Oglakci, G Onengut, K Ozdemir, D Sunar Cerci, B Tali, H Topakli, S Turkcapar, I S Zorbakir, C Zorbilmez, B Bilin, S Bilmis, B Isildak, G Karapinar, M Yalvac, M Zeyrek, E Gülmez, M Kaya, O Kaya, E A Yetkin, T Yetkin, A Cakir, K Cankocak, S Sen, B Grynyov, L Levchuk, P Sorokin, R Aggleton, F Ball, L Beck, J J Brooke, D Burns, E Clement, D Cussans, H Flacher, J Goldstein, M Grimes, G P Heath, H F Heath, J Jacob, L Kreczko, C Lucas, D M Newbold, S Paramesvaran, A Poll, T Sakuma, S Seif El Nasr-Storey, D Smith, V J Smith, K W Bell, A Belyaev, C Brew, R M Brown, L Calligaris, D Cieri, D J A Cockerill, J A Coughlan, K Harder, S Harper, E Olaiya, D Petyt, C H Shepherd-Themistocleous, A Thea, I R Tomalin, T Williams, M Baber, R Bainbridge, O Buchmuller, A Bundock, S Casasso, M Citron, D Colling, L Corpe, P Dauncey, G Davies, A De Wit, M Della Negra, R Di Maria, P Dunne, A Elwood, D Futyan, Y Haddad, G Hall, G Iles, T James, R Lane, C Laner, L Lyons, A-M Magnan, S Malik, L Mastrolorenzo, J Nash, A Nikitenko, J Pela, B Penning, M Pesaresi, D M Raymond, A Richards, A Rose, E Scott, C Seez, S Summers, A Tapper, K Uchida, M Vazquez Acosta, T Virdee, J Wright, S C Zenz, J E Cole, P R Hobson, A Khan, P Kyberd, I D Reid, P Symonds, L Teodorescu, M Turner, A Borzou, K Call, J Dittmann, K Hatakeyama, H Liu, N Pastika, R Bartek, A Dominguez, A Buccilli, S I Cooper, C Henderson, P Rumerio, C West, D Arcaro, A Avetisyan, T Bose, D Gastler, D Rankin, C Richardson, J Rohlf, L Sulak, D Zou, G Benelli, D Cutts, A Garabedian, J Hakala, U Heintz, J M Hogan, O Jesus, K H M Kwok, E Laird, G Landsberg, Z Mao, M Narain, S Piperov, S Sagir, E Spencer, R Syarif, R Breedon, D Burns, M Calderon De La Barca Sanchez, S Chauhan, M Chertok, J Conway, R Conway, P T Cox, R Erbacher, C Flores, G Funk, M Gardner, W Ko, R Lander, C Mclean, M Mulhearn, D Pellett, J Pilot, S Shalhout, M Shi, J Smith, M Squires, D Stolp, K Tos, M Tripathi, M Bachtis, C Bravo, R Cousins, A Dasgupta, A Florent, J Hauser, M Ignatenko, N Mccoll, D Saltzberg, C Schnaible, V Valuev, M Weber, E Bouvier, K Burt, R Clare, J Ellison, J W Gary, S M A Ghiasi Shirazi, G Hanson, J Heilman, P Jandir, E Kennedy, F Lacroix, O R Long, M Olmedo Negrete, M I Paneva, A Shrinivas, W Si, H Wei, S Wimpenny, B R Yates, J G Branson, G B Cerati, S Cittolin, M Derdzinski, R Gerosa, A Holzner, D Klein, V Krutelyov, J Letts, I Macneill, D Olivito, S Padhi, M Pieri, M Sani, V Sharma, S Simon, M Tadel, A Vartak, S Wasserbaech, C Welke, J Wood, F Würthwein, A Yagil, G Zevi Della Porta, N Amin, R Bhandari, J Bradmiller-Feld, C Campagnari, A Dishaw, V Dutta, M Franco Sevilla, C George, F Golf, L Gouskos, J Gran, R Heller, J Incandela, S D Mullin, A Ovcharova, H Qu, J Richman, D Stuart, I Suarez, J Yoo, D Anderson, J Bendavid, A Bornheim, J Bunn, J Duarte, J M Lawhorn, A Mott, H B Newman, C Pena, M Spiropulu, J R Vlimant, S Xie, R Y Zhu, M B Andrews, T Ferguson, M Paulini, J Russ, M Sun, H Vogel, I Vorobiev, M Weinberg, J P Cumalat, W T Ford, F Jensen, A Johnson, M Krohn, S Leontsinis, T Mulholland, K Stenson, S R Wagner, J Alexander, J Chaves, J Chu, S Dittmer, K Mcdermott, N Mirman, J R Patterson, A Rinkevicius, A Ryd, L Skinnari, L Soffi, S M Tan, Z Tao, J Thom, J Tucker, P Wittich, M Zientek, D Winn, S Abdullin, M Albrow, G Apollinari, A Apresyan, S Banerjee, L A T Bauerdick, A Beretvas, J Berryhill, P C Bhat, G Bolla, K Burkett, J N Butler, H W K Cheung, F Chlebana, S Cihangir, M Cremonesi, V D Elvira, I Fisk, J Freeman, E Gottschalk, L Gray, D Green, S Grünendahl, O Gutsche, D Hare, R M Harris, S Hasegawa, J Hirschauer, Z Hu, B Jayatilaka, S Jindariani, M Johnson, U Joshi, B Klima, B Kreis, S Lammel, J Linacre, D Lincoln, R Lipton, M Liu, T Liu, R Lopes De Sá, J Lykken, K Maeshima, N Magini, J M Marraffino, S Maruyama, D Mason, P McBride, P Merkel, S Mrenna, S Nahn, V O'Dell, K Pedro, O Prokofyev, G Rakness, L Ristori, E Sexton-Kennedy, A Soha, W J Spalding, L Spiegel, S Stoynev, J Strait, N Strobbe, L Taylor, S Tkaczyk, N V Tran, L Uplegger, E W Vaandering, C Vernieri, M Verzocchi, R Vidal, M Wang, H A Weber, A Whitbeck, Y Wu, D Acosta, P Avery, P Bortignon, D Bourilkov, A Brinkerhoff, A Carnes, M Carver, D Curry, S Das, R D Field, I K Furic, J Konigsberg, A Korytov, J F Low, P Ma, K Matchev, H Mei, G Mitselmakher, D Rank, L Shchutska, D Sperka, L Thomas, J Wang, S Wang, J Yelton, S Linn, P Markowitz, G Martinez, J L Rodriguez, A Ackert, T Adams, A Askew, S Bein, S Hagopian, V Hagopian, K F Johnson, T Kolberg, T Perry, H Prosper, A Santra, R Yohay, M M Baarmand, V Bhopatkar, S Colafranceschi, M Hohlmann, D Noonan, T Roy, F Yumiceva, M R Adams, L Apanasevich, D Berry, R R Betts, R Cavanaugh, X Chen, O Evdokimov, C E Gerber, D A Hangal, D J Hofman, K Jung, J Kamin, I D Sandoval Gonzalez, H Trauger, N Varelas, H Wang, Z Wu, J Zhang, B Bilki, W Clarida, K Dilsiz, S Durgut, R P Gandrajula, M Haytmyradov, V Khristenko, J-P Merlo, H Mermerkaya, A Mestvirishvili, A Moeller, J Nachtman, H Ogul, Y Onel, F Ozok, A Penzo, C Snyder, E Tiras, J Wetzel, K Yi, B Blumenfeld, A Cocoros, N Eminizer, D Fehling, L Feng, A V Gritsan, P Maksimovic, J Roskes, U Sarica, M Swartz, M Xiao, C You, A Al-Bataineh, P Baringer, A Bean, S Boren, J Bowen, J Castle, L Forthomme, S Khalil, A Kropivnitskaya, D Majumder, W Mcbrayer, M Murray, S Sanders, R Stringer, J D Tapia Takaki, Q Wang, A Ivanov, K Kaadze, Y Maravin, A Mohammadi, L K Saini, N Skhirtladze, S Toda, F Rebassoo, D Wright, C Anelli, A Baden, O Baron, A Belloni, B Calvert, S C Eno, C Ferraioli, J A Gomez, N J Hadley, S Jabeen, G Y Jeng, R G Kellogg, J Kunkle, A C Mignerey, F Ricci-Tam, Y H Shin, A Skuja, M B Tonjes, S C Tonwar, D Abercrombie, B Allen, A Apyan, V Azzolini, R Barbieri, A Baty, R Bi, K Bierwagen, S Brandt, W Busza, I A Cali, M D'Alfonso, Z Demiragli, G Gomez Ceballos, M Goncharov, D Hsu, Y Iiyama, G M Innocenti, M Klute, D Kovalskyi, K Krajczar, Y S Lai, Y-J Lee, A Levin, P D Luckey, B Maier, A C Marini, C Mcginn, C Mironov, S Narayanan, X Niu, C Paus, C Roland, G Roland, J Salfeld-Nebgen, G S F Stephans, K Tatar, D Velicanu, J Wang, T W Wang, B Wyslouch, A C Benvenuti, R M Chatterjee, A Evans, P Hansen, S Kalafut, S C Kao, Y Kubota, Z Lesko, J Mans, S Nourbakhsh, N Ruckstuhl, R Rusack, N Tambe, J Turkewitz, J G Acosta, S Oliveros, E Avdeeva, K Bloom, D R Claes, C Fangmeier, R Gonzalez Suarez, R Kamalieddin, I Kravchenko, A Malta Rodrigues, J Monroy, J E Siado, G R Snow, B Stieger, M Alyari, J Dolen, A Godshalk, C Harrington, I Iashvili, J Kaisen, D Nguyen, A Parker, S Rappoccio, B Roozbahani, G Alverson, E Barberis, A Hortiangtham, A Massironi, D M Morse, D Nash, T Orimoto, R Teixeira De Lima, D Trocino, R-J Wang, D Wood, S Bhattacharya, O Charaf, K A Hahn, N Mucia, N Odell, B Pollack, M H Schmitt, K Sung, M Trovato, M Velasco, N Dev, M Hildreth, K Hurtado Anampa, C Jessop, D J Karmgard, N Kellams, K Lannon, N Marinelli, F Meng, C Mueller, Y Musienko, M Planer, A Reinsvold, R Ruchti, N Rupprecht, G Smith, S Taroni, M Wayne, M Wolf, A Woodard, J Alimena, L Antonelli, B Bylsma, L S Durkin, S Flowers, B Francis, A Hart, C Hill, W Ji, B Liu, W Luo, D Puigh, B L Winer, H W Wulsin, S Cooperstein, O Driga, P Elmer, J Hardenbrook, P Hebda, D Lange, J Luo, D Marlow, T Medvedeva, K Mei, I Ojalvo, J Olsen, C Palmer, P Piroué, D Stickland, A Svyatkovskiy, C Tully, S Malik, A Barker, V E Barnes, S Folgueras, L Gutay, M K Jha, M Jones, A W Jung, A Khatiwada, D H Miller, N Neumeister, J F Schulte, X Shi, J Sun, F Wang, W Xie, N Parashar, J Stupak, A Adair, B Akgun, Z Chen, K M Ecklund, F J M Geurts, M Guilbaud, W Li, B Michlin, M Northup, B P Padley, J Roberts, J Rorie, Z Tu, J Zabel, B Betchart, A Bodek, P de Barbaro, R Demina, Y T Duh, T Ferbel, M Galanti, A Garcia-Bellido, J Han, O Hindrichs, A Khukhunaishvili, K H Lo, P Tan, M Verzetti, A Agapitos, J P Chou, Y Gershtein, T A Gómez Espinosa, E Halkiadakis, M Heindl, E Hughes, S Kaplan, R Kunnawalkam Elayavalli, S Kyriacou, A Lath, R Montalvo, K Nash, M Osherson, H Saka, S Salur, S Schnetzer, D Sheffield, S Somalwar, R Stone, S Thomas, P Thomassen, M Walker, A G Delannoy, M Foerster, J Heideman, G Riley, K Rose, S Spanier, K Thapa, O Bouhali, A Celik, M Dalchenko, M De Mattia, A Delgado, S Dildick, R Eusebi, J Gilmore, T Huang, E Juska, T Kamon, R Mueller, Y Pakhotin, R Patel, A Perloff, L Perniè, D Rathjens, A Safonov, A Tatarinov, K A Ulmer, N Akchurin, J Damgov, F De Guio, C Dragoiu, P R Dudero, J Faulkner, E Gurpinar, S Kunori, K Lamichhane, S W Lee, T Libeiro, T Peltola, S Undleeb, I Volobouev, Z Wang, S Greene, A Gurrola, R Janjam, W Johns, C Maguire, A Melo, H Ni, P Sheldon, S Tuo, J Velkovska, Q Xu, M W Arenton, P Barria, B Cox, R Hirosky, A Ledovskoy, H Li, C Neu, T Sinthuprasith, X Sun, Y Wang, E Wolfe, F Xia, C Clarke, R Harr, P E Karchin, J Sturdy, S Zaleski, D A Belknap, J Buchanan, C Caillol, S Dasu, L Dodd, S Duric, B Gomber, M Grothe, M Herndon, A Hervé, U Hussain, P Klabbers, A Lanaro, A Levine, K Long, R Loveless, G A Pierro, G Polese, T Ruggles, A Savin, N Smith, W H Smith, D Taylor, N Woods
Normalized double-differential cross sections for top quark pair ([Formula: see text]) production are measured in pp collisions at a centre-of-mass energy of 8[Formula: see text] with the CMS experiment at the LHC. The analyzed data correspond to an integrated luminosity of 19.7[Formula: see text]. The measurement is performed in the dilepton [Formula: see text] final state. The [Formula: see text] cross section is determined as a function of various pairs of observables characterizing the kinematics of the top quark and [Formula: see text] system...
2017: European Physical Journal. C, Particles and Fields
https://www.readbyqxmd.com/read/28933431/erratum-genome-scale-activation-screen-identifies-a-lncrna-locus-regulating-a-gene-neighbourhood
#10
Julia Joung, Jesse M Engreitz, Silvana Konermann, Omar O Abudayyeh, Vanessa K Verdine, Francois Aguet, Jonathan S Gootenberg, Neville E Sanjana, Jason B Wright, Charles P Fulco, Yuen-Yi Tseng, Charles H Yoon, Jesse S Boehm, Eric S Lander, Feng Zhang
This corrects the article DOI: 10.1038/nature23451.
September 20, 2017: Nature
https://www.readbyqxmd.com/read/28825726/a-mutational-signature-reveals-alterations-underlying-deficient-homologous-recombination-repair-in-breast-cancer
#11
Paz Polak, Jaegil Kim, Lior Z Braunstein, Rosa Karlic, Nicholas J Haradhavala, Grace Tiao, Daniel Rosebrock, Dimitri Livitz, Kirsten Kübler, Kent W Mouw, Atanas Kamburov, Yosef E Maruvka, Ignaty Leshchiner, Eric S Lander, Todd R Golub, Aviad Zick, Alexandre Orthwein, Michael S Lawrence, Rajbir N Batra, Carlos Caldas, Daniel A Haber, Peter W Laird, Hui Shen, Leif W Ellisen, Alan D D'Andrea, Stephen J Chanock, William D Foulkes, Gad Getz
Biallelic inactivation of BRCA1 or BRCA2 is associated with a pattern of genome-wide mutations known as signature 3. By analyzing ∼1,000 breast cancer samples, we confirmed this association and established that germline nonsense and frameshift variants in PALB2, but not in ATM or CHEK2, can also give rise to the same signature. We were able to accurately classify missense BRCA1 or BRCA2 variants known to impair homologous recombination (HR) on the basis of this signature. Finally, we show that epigenetic silencing of RAD51C and BRCA1 by promoter methylation is strongly associated with signature 3 and, in our data set, was highly enriched in basal-like breast cancers in young individuals of African descent...
October 2017: Nature Genetics
https://www.readbyqxmd.com/read/28792927/genome-scale-activation-screen-identifies-a-lncrna-locus-regulating-a-gene-neighbourhood
#12
Julia Joung, Jesse M Engreitz, Silvana Konermann, Omar O Abudayyeh, Vanessa K Verdine, Francois Aguet, Jonathan S Gootenberg, Neville E Sanjana, Jason B Wright, Charles P Fulco, Yuen-Yi Tseng, Charles H Yoon, Jesse S Boehm, Eric S Lander, Feng Zhang
Mammalian genomes contain thousands of loci that transcribe long noncoding RNAs (lncRNAs), some of which are known to carry out critical roles in diverse cellular processes through a variety of mechanisms. Although some lncRNA loci encode RNAs that act non-locally (in trans), there is emerging evidence that many lncRNA loci act locally (in cis) to regulate the expression of nearby genes-for example, through functions of the lncRNA promoter, transcription, or transcript itself. Despite their potentially important roles, it remains challenging to identify functional lncRNA loci and distinguish among these and other mechanisms...
August 17, 2017: Nature
https://www.readbyqxmd.com/read/28725791/quality-improvement-intervention-for-reduction-of-redundant-testing
#13
Alan M Ducatman, Danyel H Tacker, Barbara S Ducatman, Dustin Long, Peter L Perrotta, Hannah Lawther, Kelly Pennington, Owen Lander, Mary Warden, Conard Failinger, Kevin Halbritter, Ronald Pellegrino, Marney Treese, Jeffrey A Stead, Eric Glass, Lauren Cianciaruso, Konrad C Nau
Laboratory data are critical to analyzing and improving clinical quality. In the setting of residual use of creatine kinase M and B isoenzyme testing for myocardial infarction, we assessed disease outcomes of discordant creatine kinase M and B isoenzyme +/troponin I (-) test pairs in order to address anticipated clinician concerns about potential loss of case-finding sensitivity following proposed discontinuation of routine creatine kinase and creatine kinase M and B isoenzyme testing. Time-sequenced interventions were introduced...
January 2017: Acad Pathol
https://www.readbyqxmd.com/read/28678778/an-immunogenic-personal-neoantigen-vaccine-for-patients-with-melanoma
#14
Patrick A Ott, Zhuting Hu, Derin B Keskin, Sachet A Shukla, Jing Sun, David J Bozym, Wandi Zhang, Adrienne Luoma, Anita Giobbie-Hurder, Lauren Peter, Christina Chen, Oriol Olive, Todd A Carter, Shuqiang Li, David J Lieb, Thomas Eisenhaure, Evisa Gjini, Jonathan Stevens, William J Lane, Indu Javeri, Kaliappanadar Nellaiappan, Andres M Salazar, Heather Daley, Michael Seaman, Elizabeth I Buchbinder, Charles H Yoon, Maegan Harden, Niall Lennon, Stacey Gabriel, Scott J Rodig, Dan H Barouch, Jon C Aster, Gad Getz, Kai Wucherpfennig, Donna Neuberg, Jerome Ritz, Eric S Lander, Edward F Fritsch, Nir Hacohen, Catherine J Wu
Effective anti-tumour immunity in humans has been associated with the presence of T cells directed at cancer neoantigens, a class of HLA-bound peptides that arise from tumour-specific mutations. They are highly immunogenic because they are not present in normal tissues and hence bypass central thymic tolerance. Although neoantigens were long-envisioned as optimal targets for an anti-tumour immune response, their systematic discovery and evaluation only became feasible with the recent availability of massively parallel sequencing for detection of all coding mutations within tumours, and of machine learning approaches to reliably predict those mutated peptides with high-affinity binding of autologous human leukocyte antigen (HLA) molecules...
July 13, 2017: Nature
https://www.readbyqxmd.com/read/28666119/type-2-diabetes-variants-disrupt-function-of-slc16a11-through-two-distinct-mechanisms
#15
Victor Rusu, Eitan Hoch, Josep M Mercader, Danielle E Tenen, Melissa Gymrek, Christina R Hartigan, Michael DeRan, Marcin von Grotthuss, Pierre Fontanillas, Alexandra Spooner, Gaelen Guzman, Amy A Deik, Kerry A Pierce, Courtney Dennis, Clary B Clish, Steven A Carr, Bridget K Wagner, Monica Schenone, Maggie C Y Ng, Brian H Chen, Federico Centeno-Cruz, Carlos Zerrweck, Lorena Orozco, David M Altshuler, Stuart L Schreiber, Jose C Florez, Suzanne B R Jacobs, Eric S Lander
Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization...
June 29, 2017: Cell
https://www.readbyqxmd.com/read/28658208/recurrent-and-functional-regulatory-mutations-in-breast-cancer
#16
Esther Rheinbay, Prasanna Parasuraman, Jonna Grimsby, Grace Tiao, Jesse M Engreitz, Jaegil Kim, Michael S Lawrence, Amaro Taylor-Weiner, Sergio Rodriguez-Cuevas, Mara Rosenberg, Julian Hess, Chip Stewart, Yosef E Maruvka, Petar Stojanov, Maria L Cortes, Sara Seepo, Carrie Cibulskis, Adam Tracy, Trevor J Pugh, Jesse Lee, Zongli Zheng, Leif W Ellisen, A John Iafrate, Jesse S Boehm, Stacey B Gabriel, Matthew Meyerson, Todd R Golub, Jose Baselga, Alfredo Hidalgo-Miranda, Toshi Shioda, Andre Bernards, Eric S Lander, Gad Getz
Genomic analysis of tumours has led to the identification of hundreds of cancer genes on the basis of the presence of mutations in protein-coding regions. By contrast, much less is known about cancer-causing mutations in non-coding regions. Here we perform deep sequencing in 360 primary breast cancers and develop computational methods to identify significantly mutated promoters. Clear signals are found in the promoters of three genes. FOXA1, a known driver of hormone-receptor positive breast cancer, harbours a mutational hotspot in its promoter leading to overexpression through increased E2F binding...
July 6, 2017: Nature
https://www.readbyqxmd.com/read/28590340/colonic-phenotypes-are-associated-with-poorer-response-to-anti-tnf-therapies-in-patients-with-ibd
#17
Soon Man Yoon, Talin Haritunians, Sultan Chhina, Zhenqiu Liu, Shaohong Yang, Carol Landers, Dalin Li, Byong Duk Ye, David Shih, Eric A Vasiliauskas, Andrew Ippoliti, Shervin Rabizadeh, Stephan R Targan, Gil Y Melmed, Dermot P B McGovern
BACKGROUND: Although anti-tumor necrosis factor (TNF) agents are effective in patients with inflammatory bowel disease (IBD), many patients either do not respond to anti-TNF treatment or lose response over time. The aim of this study was to determine factors associated with response to anti-TNF therapy in IBD. METHODS: Patients with Crohn's disease (CD) or ulcerative colitis who had consented to participate in a genetics registry and been treated with anti-TNF agents were evaluated retrospectively and categorized as primary nonresponders or secondary nonresponders...
August 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28506971/protein-truncating-variants-at-the-cholesteryl-ester-transfer-protein-gene-and-risk-for-coronary-heart-disease
#18
Akihiro Nomura, Hong-Hee Won, Amit V Khera, Fumihiko Takeuchi, Kaoru Ito, Shane McCarthy, Connor A Emdin, Derek Klarin, Pradeep Natarajan, Seyedeh M Zekavat, Namrata Gupta, Gina M Peloso, Ingrid B Borecki, Tanya M Teslovich, Rosanna Asselta, Stefano Duga, Piera A Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartze, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Jyh-Ming J Juang, Chao A Hsiung, Shih-Yi Lin, Jun-Sing Wang, Hayato Tada, Masa-Aki Kawashiri, Akihiro Inazu, Masakazu Yamagishi, Tomohiro Katsuya, Eitaro Nakashima, Masahiro Nakatochi, Ken Yamamoto, Mitsuhiro Yokota, Yukihide Momozawa, Jerome I Rotter, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen J Willer, Goncalo R Abecasis, Danish Saleheen, Michiaki Kubo, Norihiro Kato, Yii-Der Ida Chen, Frederick E Dewey, Sekar Kathiresan
RATIONALE: Therapies that inhibit CETP (cholesteryl ester transfer protein) have failed to demonstrate a reduction in risk for coronary heart disease (CHD). Human DNA sequence variants that truncate the CETP gene may provide insight into the efficacy of CETP inhibition. OBJECTIVE: To test whether protein-truncating variants (PTVs) at the CETP gene were associated with plasma lipid levels and CHD. METHODS AND RESULTS: We sequenced the exons of the CETP gene in 58 469 participants from 12 case-control studies (18 817 CHD cases, 39 652 CHD-free controls)...
June 23, 2017: Circulation Research
https://www.readbyqxmd.com/read/28461555/cell-scientist-to-watch-mitchell-guttman
#19
(no author information available yet)
Mitchell received a bachelor's degree in molecular and computational biology and a master's degree in computational biology and bioinformatics from the University of Pennsylvania. He then joined the laboratory of Eric Lander at the Broad Institute of MIT and Harvard and was awarded his PhD in 2012. The same year he was named in the Forbes '30 under 30: science and healthcare' list of rising stars and received an NIH early independence award. Mitchell subsequently moved to the California Institute of Technology as an Assistant Professor to establish his own laboratory...
May 1, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28406212/human-knockouts-and-phenotypic-analysis-in-a-cohort-with-a-high-rate-of-consanguinity
#20
Danish Saleheen, Pradeep Natarajan, Irina M Armean, Wei Zhao, Asif Rasheed, Sumeet A Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H O'Donnell-Luria, Kaitlin E Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M Krauss, Daniel G MacArthur, Stacey Gabriel, Eric S Lander, Mark J Daly, Philippe Frossard, John Danesh, Daniel J Rader, Sekar Kathiresan
A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene function. Consanguineous unions are more likely to result in offspring carrying homozygous loss-of-function mutations. In Pakistan, consanguinity rates are notably high. Here we sequence the protein-coding regions of 10,503 adult participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS), designed to understand the determinants of cardiometabolic diseases in individuals from South Asia...
April 12, 2017: Nature
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