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Cunliffe, Andrew M. ; Anderson, Karen ; Boschetti, Fabio ; Brazier, Richard E. ; Graham, Hugh A. ; Myers-Smith, Isla H. ; Astor, Thomas ; Boer, Matthias M. ; Calvo, Leonor G. ; Clark, Patrick E. ; Cramer, Michael D. ; Encinas-Lara, Miguel S. ; Escarzaga, Stephen M. ; Fernández-Guisuraga, José M. ; Fisher, Adrian G. ; Gdulová, Kateřina ; Gillespie, Breahna M. ; Griebel, Anne ; Hanan, Niall P. ; Hanggito, Muhammad S. ; Haselberger, Stefan ; Havrilla, Caroline A. ; Heilman, Phil ; Ji, Wenjie ; Karl, Jason W. ; Kirchhoff, Mario ; Kraushaar, Sabine ; Lyons, Mitchell B. ; Marzolff, Irene ; Mauritz, Marguerite E. ; McIntire, Cameron D. ; Metzen, Daniel ; Méndez-Barroso, Luis A. ; Power, Simon C. ; Prošek, Jiří ; Sanz-Ablanedo, Enoc ; Sauer, Katherine J. ; Schulze-Brüninghoff, Damian ; Šímová, Petra ; Sitch, Stephen ; Smit, Julian L. ; Steele, Caiti M. ; Suárez-Seoane, Susana ; Vargas, Sergio A. ; Villarreal, Miguel ; Visser, Fleur ; Wachendorf, Michael ; Wirnsberger, Hannes ; Wojcikiewicz, Robert
Non-forest ecosystems, dominated by shrubs, grasses and herbaceous plants, provide ecosystem services including carbon sequestration and forage for grazing, and are highly sensitive to climatic changes. Yet these ecosystems are poorly represented in remotely sensed biomass products and are undersampled by in situ monitoring. Current global change threats emphasize the need for new tools to capture biomass change in non-forest ecosystems at appropriate scales. Here we developed and deployed a new protocol for photogrammetric height using unoccupied aerial vehicle (UAV) images to test its capability for delivering standardized measurements of biomass across a globally distributed field experiment. We assessed whether canopy height inferred from UAV photogrammetry allows the prediction of aboveground biomass (AGB) across low-stature plant species by conducting 38 photogrammetric surveys over 741 harvested plots to sample 50 species. We found mean canopy height was strongly predictive of AGB across species, with a median adjusted R2 of 0.87 (ranging from 0.46 to 0.99) and median prediction error from leave-one-out cross-validation of 3.9%. Biomass per-unit-of-height was similar within but different among, plant functional types. We found that photogrammetric reconstructions of canopy height were sensitive to wind speed but not sun elevation during surveys. We demonstrated that our photogrammetric approach produced generalizable measurements across growth forms and environmental settings and yielded accuracies as good as those obtained from in situ approaches. We demonstrate that using a standardized approach for UAV photogrammetry can deliver accurate AGB estimates across a wide range of dynamic and heterogeneous ecosystems. Many academic and land management institutions have the technical capacity to deploy these approaches over extents of 1–10 ha−1. Photogrammetric approaches could provide much-needed information required to calibrate and validate the vegetation models and satellite-derived biomass products that are essential to understand vulnerable and understudied non-forested ecosystems around the globe.
Appelshäuser, Harald ; Bächler, Joachim ; Bailey, Stephen John ; Barnby, Lee Stuart ; Bartke, Jerzy ; Barton, Robert Allan ; Białkowska, Helena ; Billmeier, Anja ; Blyth, Charles O. ; Bock, Rudolf ; Bormann, Christian ; Brady, Franklin Paul ; Brockmann, Robert ; Brun, René ; Bunčić, Predrag ; Caines, Helen Louise ; Cebra, Daniel A. ; Cooper, Glenn E. ; Cramer, John G. ; Csato, Peter ; Dunn, Jason ; Eckardt, Volker ; Eckhardt, Frank ; Ferguson, M. I. ; Fischer, Hans Gerhard ; Flierl, Dominik Bernhard ; Fodor, Zoltan ; Foka, Panagiota ; Freund, Peter ; Friese, Volker ; Fuchs, Matthias ; Gabler, Frank ; Gal, Jozsef ; Gaździcki, Marek ; Gładysz-Dziaduś, Ewa ; Grebieszkow, Jaroslaw ; Günther, Jörg ; Harris, John W. ; Hegyi, Sandor ; Henkel, Torsten ; Hill, L. A. ; Huang, Isaac ; Hümmler, Holm Gero ; Igo, George J. ; Irmscher, Detlef ; Jacobs, Peter Martin ; Jones, Peter Graham ; Kadija, Krešo ; Kolesnikov, Vadim I. ; Kowalski, Marek ; Lasiuk, Brian ; Lévai, Peter ; Malakhov, Aleksandr I. ; Margetis, Spyridon ; Markert, Christina ; Melkumov, Georgy L. ; Mock, Andreas ; Molnár, József ; Nelson, John M. ; Oldenburg, Markus D. ; Odyniec, Grazyna Janina ; Palla, Gabriella ; Panagiotou, Apostolos D. ; Petridis, Athanasios ; Piper, Andreas ; Porter, R. Jefferson ; Poskanzer, Arthur M. ; Poziombka, Stefan ; Prindle, Duncan J. ; Pühlhofer, Falk ; Rauch, Wolfgang Hans ; Reid, Jeffrey G. ; Renfordt, Rainer Arno Ernst ; Retyk, Waldemar ; Ritter, Hans Georg ; Röhrich, Dieter ; Roland, Christof ; Roland, Gunther ; Rudolph, Heinrich ; Rybicki, Andrzej ; Sandoval, Andres ; Sann, Hans ; Semenov, Alexei Yu. ; Schäfer, Erich ; Schmischke, Dirk ; Schmitz, Norbert ; Schönfelder, Stefan ; Seyboth, Peter ; Seyerlein, Jürgen ; Sikler, Ferenc ; Skrzypczak, Ewa ; Squier, Gordon Thomas Anderson ; Stock, Reinhard ; Ströbele, Herbert ; Szentpetery, Imre ; Sziklay, Janos ; Toy, Milton Y. ; Trainor, Thomas A. ; Trentalage, Stephen ; Ullrich, Thomas ; Vassiliou, Maria ; Vesztergombi, György ; Voloshin, Sergei ; Vranić, Danilo ; Wang, Feipeng ; Weerasundara, Dhammika D. ; Wenig, Siegfried ; Whitten, Charles A. ; Wienold, Thomas ; Wood, Lindsay ; Yates, Tim A. ; Xu, Nu ; Zimanyi, Jozsef ; Zhu, Xue-Zhou ; Zybert, Ryszard
Two-particle correlation functions of negative hadrons over wide phase space, and transverse mass spectra of negative hadrons and deuterons near mid-rapidity have been measured in central Pb+Pb collisions at 158 GeV per nucleon by the NA49 experiment at the CERN SPS. A novel Coulomb correction procedure for the negative two-particle correlations is employed making use of the measured oppositely charged particle correlation. Within an expanding source scenario these results are used to extract the dynamic characteristics of the hadronic source, resolving the ambiguities between the temperature and transverse expansion velocity of the source, that are unavoidable when single and two particle spectra are analysed separately. The source shape, the total duration of the source expansion, the duration of particle emission, the freeze-out temperature and the longitudinal and transverse expansion velocities are deduced.
Appelshäuser, Harald ; Bächler, Joachim ; Bailey, Stephen John ; Barnby, Lee Stuart ; Bartke, Jerzy ; Barton, Robert Allan ; Białkowska, Helena ; Blyth, Charles O. ; Bock, Rudolf ; Bormann, Christian ; Brady, Franklin Paul ; Brockmann, Robert ; Buncic, Nenad ; Bunčić, Predrag ; Caines, Helen Louise ; Cebra, Daniel A. ; Cooper, Glenn E. ; Cramer, John G. ; Csató, Péter ; Dunn, Jason ; Eckardt, Volker ; Eckhardt, Frank ; Ferguson, M. I. ; Fischer, Hans Gerhard ; Flierl, Dominik Bernhard ; Fodor, Zoltán ; Foka, Panagiota ; Freund, Peter ; Friese, Volker ; Fuchs, Matthias ; Gabler, Frank ; Gál, József ; Gaździcki, Marek ; Gładysz-Dziaduś, Ewa ; Grebieszkow, Jaroslaw ; Günther, Jörg ; Harris, John W. ; Hegyi, Sándor ; Henkel, Torsten ; Hill, L. A. ; Huang, Isaac ; Hümmler, Holm Gero ; Igo, George J. ; Irmscher, Detlef ; Jacobs, Peter Martin ; Jones, Peter Graham ; Kadija, Krešo ; Kolesnikov, Vadim I. ; Kowalski, Marek ; Lasiuk, Brian ; Lévai, Péter ; Malakhov, Aleksandr I. ; Margetis, Spyridon ; Markert, Christina ; Melkumov, Georgy L. ; Mock, Andreas ; Molnár, József ; Nelson, John M. ; Odyniec, Grazyna Janina ; Pálla, Gabriella ; Panagiotou, Apostolos D. ; Petridis, Athanasios ; Piper, Andreas ; Porter, R. Jefferson ; Poskanzer, Arthur M. ; Poziombka, Stefan ; Prindle, Duncan J. ; Pühlhofer, Falk ; Rauch, Wolfgang Hans ; Reid, Jeffrey G. ; Renfordt, Rainer Arno Ernst ; Retyk, Waldemar ; Ritter, Hans Georg ; Röhrich, Dieter ; Roland, Christof ; Roland, Gunther ; Rudolph, Heinrich ; Rybicki, Andrzej ; Sandoval, Andres ; Sann, Hans ; Semenov, Alexei Yu. ; Schäfer, Erich ; Schmischke, Dirk ; Schmitz, Norbert ; Schönfelder, Stefan ; Seyboth, Peter ; Seyerlein, Jürgen ; Siklér, Ferenc ; Skrzypczak, Ewa ; Squier, Gordon Thomas Anderson ; Stock, Reinhard ; Ströbele, Herbert ; Szentpétery, Imre ; Sziklay, János ; Toy, Milton Y. ; Trainor, Thomas A. ; Trentalage, Stephen ; Ullrich, Thomas ; Vassiliou, Maria ; Vesztergombi, György ; Voloshin, Sergei ; Vranić, Danilo ; Wang, F. ; Weerasundara, Dhammika D. ; Wenig, Siegfried ; Whitten, Charles A. ; Wienold, Thomas ; Wood, Lindsay ; Yates, Tim A. ; Zimányi, József ; Zybert, Ryszard
The directed and elliptic flow of protons and charged pions has been observed from the semi-central collisions of a 158 GeV/nucleon Pb beam with a Pb target. The rapidity and transverse momentum dependence of the flow has been measured. The directed flow of the pions is opposite to that of the protons but both exhibit negative flow at low pt. The elliptic flow of both is fairly independent of rapidity but rises with pt. PACS numbers: 25.75.-q, 25.75.Ld
Odyniec, Grazyna Janina ; Afanasiev, Sergey V. ; Alber, Thomas ; Appelshäuser, Harald ; Bächler, Joachim ; Bailey, Stephen John ; Barnby, Lee Stuart ; Bartke, Jerzy ; Białkowska, Helena ; Blyth, Charles O. ; Bock, Rudolf ; Bormann, Christian ; Brady, Franklin Paul ; Brockmann, Robert ; Buncic, Nenad ; Bunčić, Predrag ; Caines, Helen Louise ; Cebra, Daniel A. ; Chan, P. ; Cooper, Glenn E. ; Cramer, John G. ; Cramer, Pauline B. ; Csató, Péter ; Dietz, Oliver ; Dunn, Jason ; Eckardt, Volker ; Eckhardt, Frank ; Ferguson, M. I. ; Fischer, Hans Gerhard ; Flierl, Dominik Bernhard ; Fodor, Zoltán ; Foka, Panagiota ; Freund, Peter ; Friese, Volker ; Fuchs, M. ; Gabler, Frank ; Gál, József ; Gaździcki, Marek ; Gładysz-Dziaduś, Ewa ; Grebieszkow, Jaroslaw ; Günther, Jörg ; Harris, John W. ; Hegyi, Sándor ; Henkel, Torsten ; Hill, L. A. ; Huang, Isaac ; Howe, Mark A. ; Hümmler, Holm Gero ; Igo, George J. ; Irmscher, Detlef ; Jacobs, Peter Martin ; Jones, Peter Graham ; Kadija, Krešo ; Kolesnikov, Vadim I. ; Konashenok, Anton ; Kowalski, Marek ; Lasiuk, Brian ; Lévai, Péter ; Malakhov, Aleksandr I. ; Margetis, Spyridon ; Markert, Christina ; Melkumov, Georgy L. ; Mock, Andreas ; Molnár, József ; Nelson, John M. ; Pálla, Gabriella ; Panagiotou, Apostolos D. ; Petridis, Athanasios ; Piper, Andreas ; Porter, R. Jefferson ; Poskanzer, Arthur M. ; Poziombka, Stefan ; Prindle, Duncan J. ; Pühlhofer, Falk ; Rauch, Wolfgang Hans ; Reid, Jeffrey G. ; Renfordt, Rainer Arno Ernst ; Retyk, Waldemar ; Ritter, Hans Georg ; Röhrich, Dieter ; Roland, Christof ; Roland, Gunther ; Rudolph, Heinrich ; Rybicki, Andrzej ; Sakrejda, Iwona ; Sandoval, Andres ; Sann, Hans ; Semenov, Alexei Yu. ; Schäfer, Erich ; Schmischke, Dirk ; Schmitz, Norbert ; Schönfelder, Stefan ; Seyboth, Peter ; Seyerlein, Jürgen ; Siklér, Ferenc ; Skrzypczak, Ewa ; Squier, Gordon Thomas Anderson ; Stock, Reinhard ; Ströbele, Herbert ; Szentpétery, Imre ; Sziklai, János ; Toy, Milton Y. ; Trainor, Thomas A. ; Trentalange, Stephen ; Ullrich, Thomas ; Vassiliou, Maria ; Vesztergombi, György ; Vranić, Danilo ; Wang, Feipeng ; Weerasundara, Dhammika D. ; Wenig, Siegfried ; Whitten, Charles A. ; Wienold, Thomas ; Wood, Lindsay ; Yates, Tim A. ; Zimányi, József ; Zhu, Xue-Zhou ; Zybert, Ryszard
Using the NA49 main TPC, the central production of hyperons has been measured in CERN SPS Pb - Pb collisions at 158 GeV c-1. The preliminary ratio, studied at 2.0 < y < 2.6 and 1 < pT < 3 GeV c-1, equals ~ (13 ± 4)% (systematic error only). It is compatible, within errors, with the previously obtained ratios for central S + S [1], S + W [2], and S + Au [3] collisions. The fit to the transverse momentum distribution resulted in an inverse slope parameter T of 297 MeV. At this level of statistics we do not see any noticeable enhancement of hyperon production with the increased volume (and, possibly, degree of equilibration) of the system from S + S to Pb + Pb. This result is unexpected and counterintuitive, and should be further investigated. If confirmed, it will have a significant impact on our understanding of mechanisms leading to the enhanced strangeness production in heavy-ion collisions.
Friese, Volker ; Afanasiev, Sergey V. ; Alber, Thomas ; Appelshäuser, Harald ; Bächler, Joachim ; Bailey, Stephen John ; Barnby, Lee Stuart ; Bartke, Jerzy ; Białkowska, Helena ; Blyth, Charles O. ; Bock, Rudolf ; Bormann, Christian ; Brady, Franklin Paul ; Brockmann, Robert ; Buncic, Nenad ; Bunčić, Predrag ; Caines, Helen Louise ; Cebra, Daniel A. ; Chan, P ; Cooper, Glenn E. ; Cramer, John G. ; Cramer, Pauline B. ; Csató, Péter ; Dietz, Oliver ; Dunn, Jason ; Eckardt, Volker ; Eckhardt, Frank ; Ferguson, M. I. ; Fischer, Hans Gerhard ; Flierl, Dominik Bernhard ; Fodor, Zoltán ; Foka, Panagiota ; Freund, Peter ; Friese, Volker ; Fuchs, M ; Gabler, Frank ; Gál, József ; Gaździcki, Marek ; Gładysz-Dziaduś, Ewa ; Grebieszkow, Jaroslaw ; Günther, Jörg ; Harris, John W. ; Hegyi, Sándor ; Henkel, Torsten ; Hill, L. A. ; Huang, Isaac ; Howe, Mark A. ; Hümmler, Holm Gero ; Igo, George J. ; Irmscher, Detlef ; Jacobs, Peter Martin ; Jones, Peter Graham ; Kadija, Krešo ; Kolesnikov, Vadim I. ; Kowalski, Marek ; Lasiuk, Brian ; Lévai, Péter ; Malakhov, Aleksandr I. ; Margetis, Spyridon ; Markert, Christina ; Melkumov, Georgy L. ; Mock, Andreas ; Molnár, József ; Nelson, John M. ; Odyniec, Grazyna Janina ; Pálla, Gabriella ; Panagiotou, Apostolos D. ; Petridis, Athanasios ; Piper, Andreas ; Porter, R. Jefferson ; Poskanzer, Arthur M. ; Poziombka, Stefan ; Prindle, Duncan J. ; Pühlhofer, Falk ; Rauch, Wolfgang Hans ; Reid, Jeffrey G. ; Renfordt, Rainer Arno Ernst ; Retyk, Waldemar ; Ritter, Hans Georg ; Röhrich, Dieter ; Roland, Christof ; Roland, Gunther ; Rudolph, Heinrich ; Rybicki, Andrzej ; Sakrejda, Iwona ; Sandoval, Andres ; Sann, Hans ; Semenov, Alexei Yu. ; Schäfer, Erich ; Schmischke, Dirk ; Schmitz, Norbert ; Schönfelder, Stefan ; Seyboth, Peter ; Seyerlein, Jürgen ; Siklér, Ferenc ; Skrzypczak, Ewa ; Squier, Gordon Thomas Anderson ; Stock, Reinhard ; Ströbele, Herbert ; Szentpétery, Imre ; Sziklai, János ; Toy, Milton Y. ; Trainor, Thomas A. ; Trentalange, Stephen ; Ullrich, Thomas ; Vassiliou, Maria ; Vesztergombi, György ; Vranić, Danilo ; Wang, Feipeng ; Weerasundara, Dhammika D. ; Wenig, Siegfried ; Whitten, Charles A. ; Wienold, Thomas ; Wood, Lindsay ; Yates, Tim A. ; Zimányi, József ; Zhu, Xue-Zhou ; Zybert, Ryszard
Preliminary data on phi production in central Pb + Pb collisions at 158 GeV per nucleon are presented, measured by the NA49 experiment in the hadronic decay channel phi - K+K-. At mid-rapidity, the kaons were separated from pions and protons by combining dE/dx and time-of-flight information; in the forward rapidity range only dE/dx identification was used to obtain the rapidity distribution and a rapidity-integrated mt-spectrum. The mid-rapidity yield obtained was dN/dy = 1.85 ± 0.3 per event; the total phi multiplicity was estimated to be 5.0 ± 0.7 per event. Comparison with published pp data shows a slight, but not very significant strangeness enhancement.
Lambda and Antilambda reconstruction in central Pb+Pb collisions using a time projection chamber
(1997)
Yates, Tim A. ; Afanasiev, Sergey V. ; Alber, Thomas ; Appelshäuser, Harald ; Bächler, Joachim ; Bailey, Stephen John ; Barnby, Lee Stuart ; Bartke, Jerzy ; Białkowska, Helena ; Blyth, Charles O. ; Bock, Rudolf ; Bormann, Christian ; Brady, Franklin Paul ; Brockmann, Robert ; Buncic, Nenad ; Bunčić, Predrag ; Caines, Helen Louise ; Cebra, Daniel A. ; Chan, P ; Cooper, Glenn E. ; Cramer, John G. ; Cramer, Pauline B. ; Csató, Péter ; Dietz, Oliver ; Dunn, Jason ; Eckardt, Volker ; Eckhardt, Frank ; Ferguson, M. I. ; Fischer, Hans Gerhard ; Flierl, Dominik Bernhard ; Fodor, Zoltán ; Foka, Panagiota ; Freund, Peter ; Friese, Volker ; Fuchs, M ; Gabler, Frank ; Gál, József ; Gaździcki, Marek ; Gładysz-Dziaduś, Ewa ; Grebieszkow, Jaroslaw ; Günther, Jörg ; Harris, John W. ; Hegyi, Sándor ; Henkel, Torsten ; Hill, L. A. ; Huang, Isaac ; Howe, Mark A. ; Hümmler, Holm Gero ; Igo, George J. ; Irmscher, Detlef ; Jacobs, Peter Martin ; Jones, Peter Graham ; Kadija, Krešo ; Kolesnikov, Vadim I. ; Kowalski, Marek ; Lasiuk, Brian ; Lévai, Péter ; Malakhov, Aleksandr I. ; Margetis, Spyridon ; Markert, Christina ; Melkumov, Georgy L. ; Mock, Andreas ; Molnár, József ; Nelson, John M. ; Odyniec, Grazyna Janina ; Pálla, Gabriella ; Panagiotou, Apostolos D. ; Petridis, Athanasios ; Piper, Andreas ; Porter, R. Jefferson ; Poskanzer, Arthur M. ; Poziombka, Stefan ; Prindle, Duncan J. ; Pühlhofer, Falk ; Rauch, Wolfgang Hans ; Reid, Jeffrey G. ; Renfordt, Rainer Arno Ernst ; Retyk, Waldemar ; Ritter, Hans Georg ; Röhrich, Dieter ; Roland, Christof ; Roland, Gunther ; Rudolph, Heinrich ; Rybicki, Andrzej ; Sakrejda, Iwona ; Sandoval, Andres ; Sann, Hans ; Semenov, Alexei Yu. ; Schäfer, Erich ; Schmischke, Dirk ; Schmitz, Norbert ; Schönfelder, Stefan ; Seyboth, Peter ; Seyerlein, Jürgen ; Siklér, Ferenc ; Skrzypczak, Ewa ; Squier, Gordon Thomas Anderson ; Stock, Reinhard ; Ströbele, Herbert ; Szentpétery, Imre ; Sziklai, János ; Toy, Milton Y. ; Trainor, Thomas A. ; Trentalange, Stephen ; Ullrich, Thomas ; Vassiliou, Maria ; Vesztergombi, György ; Vranić, Danilo ; Wang, Feipeng ; Weerasundara, Dhammika D. ; Wenig, Siegfried ; Whitten, Charles A. ; Wienold, Thomas ; Wood, Lindsay ; Zimányi, József ; Zhu, X Z ; Zybert, Ryszard
The large acceptance time projection chambers of the NA49 experiment are used to record the trajectory of charged particles from Pb + Pb collisions at 158 GeV per nucleon. Neutral strange hadrons have been reconstructed from their charged decay products. To obtain distributions of Λ, and Ks0 in discrete bins of rapidity, y, and transverse momentum, pT, calculations have been performed to determine the acceptance of the detector and the efficiency of the reconstruction software as a function of both variables. The lifetime distributions obtained give values of cτ = 7.8 ± 0.6 cm for Λ and cτ = 2.5 ± 0.3 cm for Ks0, consistent with data book values.
Casey, Jillian P. ; Magalhães, Tiago R. ; Conroy, Judith M. ; Regan, Regina ; Shah, Naisha ; Anney, Richard ; Shields, Denis C. ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Cali, Phil ; Correia, Catarina ; Corsello, Christina ; Coutanche, Marc ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Foley, Suzanne ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lamb, Janine A. ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lord, Catherine ; Lund, Sabata C. ; Maestrini, Elena ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Miller, Judith ; Minopoli, Fiorella ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Nygren, Gudrun ; Oliveira, Guiomar ; Pagnamenta, Alistair T. ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Pickles, Andrew ; Pinto, Dalila ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Ragoussis, Jiannis ; Roge, Bernadette ; Rutter, Michael L. ; Sequeira, Ana F. ; Soorya, Latha ; Sousa, Inês ; Sykes, Nuala ; Stoppioni, Vera ; Tancredi, Raffaella ; Tauber, Maïté ; Thompson, Ann P. ; Thomson, Susanne ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, Jacob A. S. ; Wallace, Simon ; Wang, Kai ; Wassink, Thomas H. ; White, Kathy ; Wing, Kirsty ; Wittemeyer, Kerstin ; Yaspan, Brian L. ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Hallmayer, Joachim ; Monaco, Anthony P. ; Nurnberger, John I. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Green, Andrew ; Gill, Michael ; Gallagher, Louise ; Vicente, Astrid M. ; Ennis, Sean
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
Anney, Richard ; Klei, Lambertus ; Pinto, Dalila ; Almeida, Joana ; Bacchelli, Elena ; Baird, Gillian ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Casey, Jillian ; Conroy, Judith ; Correia, Catarina ; Corsello, Christina ; Crawford, Emily L. ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Fombonne, Eric ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Andrew ; Green, Jonathan ; Guter, Stephen J. ; Heron, Elizabeth A. ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Jacob, Suma ; Kenny, Graham P. ; Kim, Cecilia ; Kolevzon, Alexander ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Law-Smith, Miriam ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lombard, Frances ; Lord, Catherine ; Lotspeich, Linda ; Lotspeich, Linda ; Lund, Sabata C. ; Magalhães, Tiago R. ; Mantoulan, Carine ; McDougle, Christopher J. ; Melhem, Nadine M. ; Merikangas, Alison ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Noakes, Carolyn ; Nygren, Gudrun ; Papanikolaou, Katerina ; Pagnamenta, Alistair T. ; Parrini, Barbara ; Paton, Tara ; Paton, Tara ; Pickles, Andrew ; Posey, David J. ; Poustka, Fritz ; Ragoussis, Jiannis ; Regan, Regina ; Roberts, Wendy ; Roeder, Kathryn ; Roge, Bernadette ; Rutter, Michael L. ; Schlitt, Sabine ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Sousa, Inês ; Stoppioni, Vera ; Sykes, Nuala ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, JAS ; Wallace, Simon ; Wing, Kirsty ; Wittemeyer, Kerstin ; Wood, Shawn ; Zurawiecki, Danielle ; Zwaigenbaum, Lonnie ; Bailey, Anthony J. ; Battaglia, Agatino ; Cantor, Rita M. ; Coon, Hilary ; Cuccaro, Michael L. ; Dawson, Geraldine ; Ennis, Sean ; Freitag, Christine M. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Klauck, Sabine M. ; McMahon, William M. ; Maestrini, Elena ; Miller, Judith ; Monaco, Anthony P. ; Nelson, Stanley F. ; Nurnberger, John I. ; Oliveira, Guiomar ; Parr, Jeremy R. ; Pericak-Vance, Margaret Ann ; Piven, Joseph ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Vicente, Astrid M. ; Wassink, Thomas H. ; Wijsman, Ellen M. ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cook, Edwin H. ; Gallagher, Louise ; Gill, Michael ; Hallmayer, Joachim ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Hakonarson, Hakon ; Devlin, Bernie
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Anney, Richard ; Klei, Lambertus ; Pinto, Dalila ; Regan, Regina ; Conroy, Judith ; Magalhães, Tiago R. ; Correia, Catarina ; Abrahams, Brett S. ; Sykes, Nuala ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Carson, Andrew R. ; Casallo, Guillermo ; Casey, Jillian ; Chu, Su H. ; Cochrane, Lynne ; Corsello, Christina ; Crawford, Emily L. ; Crossett, Andrew ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Drmic, Irene ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Heron, Elizabeth A. ; Hill, Matthew ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Laskawiec, Magdalena ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lionel, Anath C. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Lund, Sabata C. ; Maestrini, Elena ; Mahoney, William ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Oliveira, Guiomar ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Paton, Tara ; Pickles, Andrew ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Ragoussis, Jiannis ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roeder, Kathryn ; Roge, Bernadette ; Rutter, Michael L. ; Bierut, Laura Jean ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Senman, Lili ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Sousa, Inês ; Stoppioni, Vera ; Strawbridge, Christina ; Tancredi, Raffaella ; Tansey, Katherine ; Thiruvahindrapduram, Bhooma ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Wallace, Simon ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wing, Kirsty ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Miller, Judith ; Monaco, Anthony P. ; Nurnberger, John I. ; Paterson, Andrew D. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Devlin, Bernie ; Ennis, Sean ; Hallmayer, Joachim
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Wang, Zhuozhi ; Vorstman, Jacob A. S. ; Thompson, Ann P. ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T. ; Oliveira, Bárbara ; Marshall, Christian R. ; Magalhães, Tiago R. ; Lowe, Jennifer K. ; Howe, Jennifer L. ; Griswold, Anthony J. ; Gilbert, John ; Duketis, Eftichia ; Dombroski, Beth A. ; Jonge, Maretha de ; Cuccaro, Michael L. ; Crawford, Emily L. ; Correia, Catarina T. ; Conroy, Judith ; Conceição, Inȇs C. ; Geburtig-Chiocchetti, Andreas ; Casey, Jillian P. ; Cai, Guiqing ; Cabrol, Christelle ; Bolshakova, Nadia ; Bacchelli, Elena ; Anney, Richard ; Gallinger, Steven ; Cotterchio, Michelle ; Casey, Graham ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; Wallace, Simon ; Engeland, Herman van ; Tryfon, Ana ; Thomson, Susanne ; Soorya, Latha ; Roge, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy J. ; McInnes, L. Alison ; McGrew, Susan G. ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann ; Kolevzon, Alexander ; González, Patricia Jiménez ; Jacob, Suma ; Holt, Richard ; Guter, Stephen J. ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A. ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F. ; Bölte, Sven ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J. ; Anagnostou, Evdokia ; Almeida, Joana ; Wijsman, Ellen M. ; Vieland, Veronica J. ; Vicente, Astrid M. ; Schellenberg, Gerard D. ; Pericak-Vance, Margaret Ann ; Paterson, Andrew D. ; Parr, Jeremy R. ; Oliveira, Guiomar ; Nurnberger, John I. ; Monaco, Anthony P. ; Maestrini, Elena ; Klauck, Sabine M. ; Hakonarson, Hakon ; Haines, Jonathan L. ; Geschwind, Daniel H. ; Freitag, Christine M. ; Folstein, Susan E. ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S. ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.