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作者:Sun, Kathie Y.; Bai, Xiaodong; Chen, Siying; Bao, Suying; Zhang, Chuanyi; Kapoor, Manav; Backman, Joshua; Joseph, Tyler; Maxwell, Evan; Mitra, George; Gorovits, Alexander; Mansfield, Adam; Boutkov, Boris; Gokhale, Sujit; Habegger, Lukas; Marcketta, Anthony; Locke, Adam E.; Ganel, Liron; Hawes, Alicia; Kessler, Michael D.; Sharma, Deepika; Staples, Jeffrey; Bovijn, Jonas; Gelfman, Sahar; Di Gioia, Alessandro; Rajagopal, Veera M.; Lopez, Alexander; Varela, Jennifer Rico; Alegre-Diaz, Jesus; Berumen, Jaime; Tapia-Conyer, Roberto; Kuri-Morales, Pablo; Torres, Jason; Emberson, Jonathan; Collins, Rory; Cantor, Michael; Thornton, Timothy; Kang, Hyun Min; Overton, John D.; Shuldiner, Alan R.; Cremona, M. Laura; Nafde, Mona; Baras, Aris; Abecasis, Goncalo; Marchini, Jonathan; Reid, Jeffrey G.; Salerno, William; Balasubramanian, Suganthi
作者单位:Regeneron; Universidad Nacional Autonoma de Mexico; Tecnologico de Monterrey; University of Oxford; University of Oxford
摘要:Rare coding variants that substantially affect function provide insights into the biology of a gene(1-3). However, ascertaining the frequency of such variants requires large sample sizes(4-8). Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across diverse populations. In total, 23% of the Regeneron Genetics Center Million Exome (RGC-ME) data come from individuals of African, East Asian, Indigenous American, Middle Eastern and ...
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作者:Roychoudhry, Suruchi; Kepinski, Stefan
作者单位:University of Leeds
摘要:How plants sense their orientation in relation to gravity and steer their root and shoot growth accordingly is not fully understood. The discovery of key steps needed for this process fills in some of the gaps in our knowledge.
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作者:Petridis, Petros D.
摘要:After a person takes the psychedelic compound psilocybin, some of their brain networks dissolve - especially the one involved in the perception of self, space and time. Changes to the connections to this network can last for weeks. Psilocybin induces profound changes in brain connectivity.
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作者:Stankey, C. T.; Bourges, C.; Haag, L. M.; Turner-Stokes, T.; Piedade, A. P.; Palmer-Jones, C.; Papa, I.; dos Santos, M. Silva; Zhang, Q.; Cameron, A. J.; Legrini, A.; Zhang, T.; Wood, C. S.; New, F. N.; Randzavola, L. O.; Speidel, L.; Brown, A. C.; Hall, A.; Saffioti, F.; Parkes, E. C.; Edwards, W.; Direskeneli, H.; Grayson, P. C.; Jiang, L.; Merkel, P. A.; Saruhan-Direskeneli, G.; Sawalha, A. H.; Tombetti, E.; Quaglia, A.; Thorburn, D.; Knight, J. C.; Rochford, A. P.; Murray, C. D.; Divakar, P.; Green, M.; Nye, E.; MacRae, J. I.; Jamieson, N. B.; Skoglund, P.; Cader, M. Z.; Wallace, C.; Thomas, D. C.; Lee, J. C.
作者单位:Francis Crick Institute; Imperial College London; Washington University (WUSTL); Free University of Berlin; Humboldt University of Berlin; Charite Universitatsmedizin Berlin; University of London; University College London; UCL Medical School; Royal Free London NHS Foundation Trust; University of London; University College London; Francis Crick Institute; Wellcome Trust Sanger Institute; University of Glasgow; NanoString Technologies; Francis Crick Institute; University of London; University College London; University of Oxford; Wellcome Centre for Human Genetics; University of London; University College London; Royal Free London NHS Foundation Trust; UCL Medical School; University of London; University College London; UCL Medical School; Royal Free London NHS Foundation Trust; University of Cambridge; Marmara University; National Institutes of Health (NIH) - USA; NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS); Fudan University; University of Pennsylvania; University of Pennsylvania; Istanbul University; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; Pennsylvania Commonwealth System of Higher Education (PCSHE); University of Pittsburgh; University of Milan; University of London; University College London; University of Oxford; Francis Crick Institute; University of Cambridge; University of Cambridge; MRC Biostatistics Unit
摘要:Increasing rates of autoimmune and inflammatory disease present a burgeoning threat to human health(1). This is compounded by the limited efficacy of available treatments(1) and high failure rates during drug development(2), highlighting an urgent need to better understand disease mechanisms. Here we show how functional genomics could address this challenge. By investigating an intergenic haplotype on chr21q22-which has been independently linked to inflammatory bowel disease, ankylosing spondy...
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作者:Callaway, Ewen
摘要:The cave-dwelling group hunted animals such as hyenas and hares to sustain themselves in harsh environments.
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作者:Ledford, Heidi
摘要:New research identifies some of the genes that could help to explain why lung cancer incidence rises with age but declines after the age of 75.
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作者:Gonzalez-Rueda, Ana; Jensen, Kristopher; Noormandipour, Mohammadreza; de Malmazet, Daniel; Wilson, Jonathan; Ciabatti, Ernesto; Kim, Jisoo; Williams, Elena; Poort, Jasper; Hennequin, Guillaume; Tripodi, Marco
作者单位:MRC Laboratory Molecular Biology; University of Cambridge; University of Cambridge; University of Cambridge; Nokia Corporation; Nokia United Kingdom; University of Cambridge
摘要:The execution of goal-oriented behaviours requires a spatially coherent alignment between sensory and motor maps. The current model for sensorimotor transformation in the superior colliculus relies on the topographic mapping of static spatial receptive fields onto movement endpoints(1-6). Here, to experimentally assess the validity of this canonical static model of alignment, we dissected the visuo-motor network in the superior colliculus and performed in vivo intracellular and extracellular r...
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作者:[Anonymous]
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作者:Brown, Anna-Leigh; Wilkins, Oscar G.; Keuss, Matthew J.; Hill, Sarah E.; Zanovello, Matteo; Lee, Weaverly Colleen; Bampton, Alexander; Lee, Flora C. Y.; Masino, Laura; Qi, Yue A.; Bryce-Smith, Sam; Gatt, Ariana; Hallegger, Martina; Fagegaltier, Delphine; Phatnani, Hemali; Phatnani, Hemali; Newcombe, Jia; Gustavsson, Emil K.; Seddighi, Sahba; Reyes, Joel F.; Coon, Steven L.; Ramos, Daniel; Schiavo, Giampietro; Fisher, Elizabeth M. C.; Raj, Towfique; Secrier, Maria; Lashley, Tammaryn; Ule, Jernej; Buratti, Emanuele; Humphrey, Jack; Ward, Michael E.; Fratta, Pietro
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作者:Cook, Gregory M.; McNeil, Matthew B.
作者单位:University of Queensland; Queensland University of Technology (QUT); University of Otago