作者：Kim, Dong Won; Blackshaw, Seth
作者单位：Aarhus University; Aarhus University; Johns Hopkins University; Johns Hopkins University; Johns Hopkins University; Johns Hopkins University; Johns Hopkins University
作者：Bauer, J.; Crook, C.; Baldacchini, T.
作者单位：Helmholtz Association; Karlsruhe Institute of Technology; University of California System; University of California Irvine; Edwards Lifesciences
摘要：Three-dimensional (3D) printing of silica glass is dominated by techniques that rely on traditional particle sintering. At the nanoscale, this limits their adoption within microsystem technology, which prevents technological breakthroughs. We introduce the sinterless, two-photon polymerization 3D printing of free-form fused silica nanostructures from a polyhedral oligomeric silsesquioxane (POSS) resin. Contrary to particle-loaded sacrificial binders, our POSS resin itself constitutes a continu...
作者：Fiziev, Petko P.; McRae, Jeremy; Ulirsch, Jacob C.; Dron, Jacqueline S.; Hamp, Tobias; Yang, Yanshen; Wainschtein, Pierrick; Ni, Zijian; Schraiber, Joshua G.; Gao, Hong; Cable, Dylan; Field, Yair; Aguet, Francois; Fasnacht, Marc; Metwally, Ahmed; Rogers, Jeffrey; Marques-Bonet, Tomas; Rehm, Heidi L.; O'Donnell-Luria, Anne; Khera, Amit, V; Farh, Kyle Kai-How
作者单位：Illumina; Harvard University; Harvard University Medical Affiliates; Massachusetts General Hospital; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; University of Queensland; University of Wisconsin System; University of Wisconsin Madison; Baylor College of Medicine; Baylor College of Medicine; University of Wisconsin System; University of Wisconsin Madison; Consejo Superior de Investigaciones Cientificas (CSIC); CSIC-UPF - Institut de Biologia Evolutiva (IBE); Pompeu Fabra University; ICREA; Barcelona Institute of Science & Technology; Pompeu Fabra University; Centre de Regulacio Genomica (CRG); Institut Catala de Paleontologia Miquel Crusafont (ICP); Autonomous University of Barcelona; Harvard University; Harvard University Medical Affiliates; Massachusetts General Hospital; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital
摘要：We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer similar to 10-fold larger effects than common variants in the same genes. Consequently, an individual at the phenotypic extreme and at the greatest risk for severe, early-onset disease is better identified by a few rare penetrant variants than by the collective action of many common v...
作者：Kuderna, Lukas F. K.; Gao, Hong; Janiak, Mareike C.; Kuhlwilm, Martin; Orkin, Joseph D.; Bataillon, Thomas; Manu, Shivakumara; Valenzuela, Alejandro; Bergman, Juraj; Rousselle, Marjolaine; Silva, Felipe Ennes; Agueda, Lidia; Blanc, Julie; Gut, Marta; de Vries, Dorien; Goodhead, Ian; Harris, R. Alan; Raveendran, Muthuswamy; Jensen, Axel; Chuma, Idrissa S.; Horvath, Julie E.; Hvilsom, Christina; Juan, David; Frandsen, Peter; Schraiber, Joshua G.; de Melo, Fabiano R.; Bertuol, Fabricio; Byrne, Hazel; Sampaio, Iracilda; Farias, Izeni; Valsecchi, Joao; Messias, Malu; da Silva, Maria N. F.; Trivedi, Mihir; Rossi, Rogerio; Hrbek, Tomas; Andriaholinirina, Nicole; Rabarivola, Clement J.; Zaramody, Alphonse; Jolly, Clifford J.; Phillips-Conroy, Jane; Wilkerson, Gregory; Abee, Christian; Simmons, Joe H.; Fernandez-Duque, Eduardo; Kanthaswamy, Sree; Shiferaw, Fekadu; Wu, Dongdong; Zhou, Long; Shao, Yong; Zhang, Guoji; Keyyu, Julius D.; Knauf, Sascha; Le, Minh D.; Lizano, Esther; Merker, Stefan; Navarro, Arcadi; Nadler, Tilo; Khor, Chiea Chuen; Lee, Jessica; Tan, Patrick; Lim, Weng Khong; Kitchener, Andrew C.; Zinner, Dietmar; Gut, Ivo; Melin, Amanda D.; Guschanski, Katerina; Schierup, Mikkel Heide; Beck, Robin M. D.; Umapathy, Govindhaswamy; Roos, Christian; Boubli, Jean P.; Rogers, Jeffrey; Farh, Kyle Kai-How; Bonet, Tomas Marques
作者单位：Pompeu Fabra University; Illumina; University of Salford; University of Vienna; University of Vienna; Universite de Montreal; Aarhus University; Academy of Scientific & Innovative Research (AcSIR); Council of Scientific & Industrial Research (CSIR) - India; CSIR - Centre for Cellular & Molecular Biology (CCMB); Aarhus University; Universite Libre de Bruxelles; Barcelona Institute of Science & Technology; Pompeu Fabra University; Centre de Regulacio Genomica (CRG); Baylor College of Medicine; Baylor College of Medicine; Uppsala University; University of North Carolina; North Carolina Central University; North Carolina State University; Duke University; University of North Carolina; University of North Carolina Chapel Hill; Universidade Federal de Vicosa; Universidade Federal de Amazonas; Utah System of Higher Education; University of Utah; Universidade Federal do Para; Universidade Federal de Rondonia; Institute Nacional de Pesquisas da Amazonia; Universidade Federal de Mato Grosso; Trinity University; New York University; Saint Louis University; Washington University (WUSTL); University of Texas System; UTMD Anderson Cancer Center; Yale University; Arizona State University; Arizona State University-Downtown Phoenix; Chinese Academy of Sciences; Kunming Institute of Zoology, CAS; Zhejiang University; University of Copenhagen; Chinese Academy of Sciences; Kunming Institute of Zoology, CAS; Liangzhu Laboratory; Zhejiang University; Zhejiang University; Friedrich Loeffler Institute; Vietnam National University Hanoi (VNU Hanoi) System; Vietnam National University Hanoi (VNU Hanoi) System; Autonomous University of Barcelona; Institut Catala de Paleontologia Miquel Crusafont (ICP); ICREA; Pompeu Fabra University; Barcelona Institute of Science & Technology; Pompeu Fabra University; Centre de Regulacio Genomica (CRG); Agency for Science Technology & Research (A*STAR); A*STAR - Genome Institute of Singapore (GIS); National University of Singapore; Leibniz Association; Deutsches Primatenzentrum (DPZ); University of Gottingen; University of Calgary; University of Calgary; University of Calgary; University of Edinburgh; Leibniz Association; Deutsches Primatenzentrum (DPZ)
摘要：The rich diversity of morphology and behavior displayed across primate species provides an informative context in which to study the impact of genomic diversity on fundamental biological processes. Analysis of that diversity provides insight into long-standing questions in evolutionary and conservation biology and is urgent given severe threats these species are facing. Here, we present high-coverage wholegenome data from 233 primate species representing 86% of genera and all 16 families. This...
