TY  - JOUR
A1  - Warrington, Nicole
A1  - Beaumont, Robin
A1  - Horikoshi, Momoko
A1  - Day, Felix R.
A1  - Helgeland, Øyvind
A1  - Laurin, Charles
A1  - Bacelis, Jonas
A1  - Peng, Shouneng
A1  - Hao, Ke
A1  - Feenstra, Bjarke
A1  - Wood, Andrew R.
A1  - Mahajan, Anubha
A1  - Tyrrell, Jessica
A1  - Robertson, Neil R.
A1  - Rayner, N. William
A1  - Qiao, Zhen
A1  - Moen, Gunn-Helen
A1  - Vaudel, Marc
A1  - Marsit, Carmen
A1  - Chen, Jia
A1  - Nodzenski, Michael
A1  - Schnurr, Theresia M.
A1  - Zafarmand, Mohammad Hadi
A1  - Bradfield, Jonathan P.
A1  - Grarup, Niels
A1  - Kooijman, Marjolein N.
A1  - Li-Gao, Ruifang
A1  - Geller, Frank
A1  - Ahluwalia, Tarunveer Singh
A1  - Paternoster, Lavinia
A1  - Rueedi, Rico
A1  - Huikari, Ville
A1  - Hottenga, Jouke-Jan
A1  - Lyytikäinen, Leo-Pekka
A1  - Cavadino, Alana
A1  - Metrustry, Sarah
A1  - Cousminer, Diana L.
A1  - Wu, Ying
A1  - Thiering, Elisabeth Paula
A1  - Wang, Carol A.
A1  - Have, Christian Theil
A1  - Vilor-Tejedor, Natalia
A1  - Joshi, Peter K.
A1  - Painter, Jodie N.
A1  - Ntalla, Ioanna
A1  - Myhre, Ronny
A1  - Pitkänen, Niina
A1  - van Leeuwen, Elisabeth M.
A1  - Joro, Raimo
A1  - Lagou, Vasiliki
A1  - Richmond, Rebecca C.
A1  - Espinosa, Ana
A1  - Barton, Sheila J.
A1  - Inskip, Hazel M.
A1  - Holloway, John W.
A1  - Santa-Marina, Loreto
A1  - Estivill, Xavier
A1  - Ang, Wei
A1  - Marsh, Julie A.
A1  - Reichetzeder, Christoph
A1  - Marullo, Letizia
A1  - Hocher, Berthold
A1  - Lunetta, Kathryn L.
A1  - Murabito, Joanne M.
A1  - Relton, Caroline L.
A1  - Kogevinas, Manolis
A1  - Chatzi, Leda
A1  - Allard, Catherine
A1  - Bouchard, Luigi
A1  - Hivert, Marie-France
A1  - Zhang, Ge
A1  - Muglia, Louis J.
A1  - Heikkinen, Jani
A1  - Morgen, Camilla S.
A1  - van Kampen, Antoine H. C.
A1  - van Schaik, Barbera D. C.
A1  - Mentch, Frank D.
A1  - Langenberg, Claudia
A1  - Scott, Robert A.
A1  - Zhao, Jing Hua
A1  - Hemani, Gibran
A1  - Ring, Susan M.
A1  - Bennett, Amanda J.
A1  - Gaulton, Kyle J.
A1  - Fernandez-Tajes, Juan
A1  - van Zuydam, Natalie R.
A1  - Medina-Gomez, Carolina
A1  - de Haan, Hugoline G.
A1  - Rosendaal, Frits R.
A1  - Kutalik, Zoltán
A1  - Marques-Vidal, Pedro
A1  - Das, Shikta
A1  - Willemsen, Gonneke
A1  - Mbarek, Hamdi
A1  - Müller-Nurasyid, Martina
A1  - Standl, Marie
A1  - Appel, Emil V. R.
A1  - Fonvig, Cilius Esmann
A1  - Trier, Caecilie
A1  - van Beijsterveldt, Catharina E. M.
A1  - Murcia, Mario
A1  - Bustamante, Mariona
A1  - Bonàs-Guarch, Sílvia
A1  - Hougaard, David M.
A1  - Mercader, Josep M.
A1  - Linneberg, Allan
A1  - Schraut, Katharina E.
A1  - Lind, Penelope A.
A1  - Medland, Sarah Elizabeth
A1  - Shields, Beverley M.
A1  - Knight, Bridget A.
A1  - Chai, Jin-Fang
A1  - Panoutsopoulou, Kalliope
A1  - Bartels, Meike
A1  - Sánchez, Friman
A1  - Stokholm, Jakob
A1  - Torrents, David
A1  - Vinding, Rebecca K.
A1  - Willems, Sara M.
A1  - Atalay, Mustafa
A1  - Chawes, Bo L.
A1  - Kovacs, Peter
A1  - Prokopenko, Inga
A1  - Tuke, Marcus A.
A1  - Yaghootkar, Hanieh
A1  - Ruth, Katherine S.
A1  - Jones, Samuel E.
A1  - Loh, Po-Ru
A1  - Murray, Anna
A1  - Weedon, Michael N.
A1  - Tönjes, Anke
A1  - Stumvoll, Michael
A1  - Michaelsen, Kim Fleischer
A1  - Eloranta, Aino-Maija
A1  - Lakka, Timo A.
A1  - van Duijn, Cornelia M.
A1  - Kiess, Wieland
A1  - Koerner, Antje
A1  - Niinikoski, Harri
A1  - Pahkala, Katja
A1  - Raitakari, Olli T.
A1  - Jacobsson, Bo
A1  - Zeggini, Eleftheria
A1  - Dedoussis, George V.
A1  - Teo, Yik-Ying
A1  - Saw, Seang-Mei
A1  - Montgomery, Grant W.
A1  - Campbell, Harry
A1  - Wilson, James F.
A1  - Vrijkotte, Tanja G. M.
A1  - Vrijheid, Martine
A1  - de Geus, Eco J. C. N.
A1  - Hayes, M. Geoffrey
A1  - Kadarmideen, Haja N.
A1  - Holm, Jens-Christian
A1  - Beilin, Lawrence J.
A1  - Pennell, Craig E.
A1  - Heinrich, Joachim
A1  - Adair, Linda S.
A1  - Borja, Judith B.
A1  - Mohlke, Karen L.
A1  - Eriksson, Johan G.
A1  - Widen, Elisabeth E.
A1  - Hattersley, Andrew T.
A1  - Spector, Tim D.
A1  - Kaehoenen, Mika
A1  - Viikari, Jorma S.
A1  - Lehtimaeki, Terho
A1  - Boomsma, Dorret I.
A1  - Sebert, Sylvain
A1  - Vollenweider, Peter
A1  - Sorensen, Thorkild I. A.
A1  - Bisgaard, Hans
A1  - Bonnelykke, Klaus
A1  - Murray, Jeffrey C.
A1  - Melbye, Mads
A1  - Nohr, Ellen A.
A1  - Mook-Kanamori, Dennis O.
A1  - Rivadeneira, Fernando
A1  - Hofman, Albert
A1  - Felix, Janine F.
A1  - Jaddoe, Vincent W. V.
A1  - Hansen, Torben
A1  - Pisinger, Charlotta
A1  - Vaag, Allan A.
A1  - Pedersen, Oluf
A1  - Uitterlinden, Andre G.
A1  - Jarvelin, Marjo-Riitta
A1  - Power, Christine
A1  - Hypponen, Elina
A1  - Scholtens, Denise M.
A1  - Lowe, William L.
A1  - Smith, George Davey
A1  - Timpson, Nicholas J.
A1  - Morris, Andrew P.
A1  - Wareham, Nicholas J.
A1  - Hakonarson, Hakon
A1  - Grant, Struan F. A.
A1  - Frayling, Timothy M.
A1  - Lawlor, Debbie A.
A1  - Njolstad, Pal R.
A1  - Johansson, Stefan
A1  - Ong, Ken K.
A1  - McCarthy, Mark I.
A1  - Perry, John R. B.
A1  - Evans, David M.
A1  - Freathy, Rachel M.
T1  - Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
JF  - Nature genetics
N2  - Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Y1  - 2019
SN  - 1061-4036
SN  - 1546-1718
VL  - 51
IS  - 5
SP  - 804
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Srama, Ralf
A1  - Krueger, H.
A1  - Yamaguchi, T.
A1  - Stephan, T.
A1  - Burchell, M.
A1  - Kearsley, A. T.
A1  - Sterken, V.
A1  - Postberg, F.
A1  - Kempf, S.
A1  - Grün, Eberhard
A1  - Altobelli, Nicolas
A1  - Ehrenfreund, P.
A1  - Dikarev, V.
A1  - Horanyi, M.
A1  - Sternovsky, Zoltan
A1  - Carpenter, J. D.
A1  - Westphal, A.
A1  - Gainsforth, Z.
A1  - Krabbe, A.
A1  - Agarwal, Jessica
A1  - Yano, H.
A1  - Blum, J.
A1  - Henkel, H.
A1  - Hillier, J.
A1  - Hoppe, P.
A1  - Trieloff, M.
A1  - Hsu, S.
A1  - Mocker, A.
A1  - Fiege, K.
A1  - Green, S. F.
A1  - Bischoff, A.
A1  - Esposito, F.
A1  - Laufer, R.
A1  - Hyde, T. W.
A1  - Herdrich, G.
A1  - Fasoulas, S.
A1  - Jaeckel, A.
A1  - Jones, G.
A1  - Jenniskens, P.
A1  - Khalisi, E.
A1  - Moragas-Klostermeyer, Georg
A1  - Spahn, Frank
A1  - Keller, H. U.
A1  - Frisch, P.
A1  - Levasseur-Regourd, A. C.
A1  - Pailer, N.
A1  - Altwegg, K.
A1  - Engrand, C.
A1  - Auer, S.
A1  - Silen, J.
A1  - Sasaki, S.
A1  - Kobayashi, M.
A1  - Schmidt, J.
A1  - Kissel, J.
A1  - Marty, B.
A1  - Michel, P.
A1  - Palumbo, P.
A1  - Vaisberg, O.
A1  - Baggaley, J.
A1  - Rotundi, A.
A1  - Roeser, H. P.
T1  - SARIM PLUS-sample return of comet 67P/CG and of interstellar matter
JF  - EXPERIMENTAL ASTRONOMY
N2  - The Stardust mission returned cometary, interplanetary and (probably) interstellar dust in 2006 to Earth that have been analysed in Earth laboratories worldwide. Results of this mission have changed our view and knowledge on the early solar nebula. The Rosetta mission is on its way to land on comet 67P/Churyumov-Gerasimenko and will investigate for the first time in great detail the comet nucleus and its environment starting in 2014. Additional astronomy and planetary space missions will further contribute to our understanding of dust generation, evolution and destruction in interstellar and interplanetary space and provide constraints on solar system formation and processes that led to the origin of life on Earth. One of these missions, SARIM-PLUS, will provide a unique perspective by measuring interplanetary and interstellar dust with high accuracy and sensitivity in our inner solar system between 1 and 2 AU. SARIM-PLUS employs latest in-situ techniques for a full characterisation of individual micrometeoroids (flux, mass, charge, trajectory, composition()) and collects and returns these samples to Earth for a detailed analysis. The opportunity to visit again the target comet of the Rosetta mission 67P/Churyumov-Gerasimeenternko, and to investigate its dusty environment six years after Rosetta with complementary methods is unique and strongly enhances and supports the scientific exploration of this target and the entire Rosetta mission. Launch opportunities are in 2020 with a backup window starting early 2026. The comet encounter occurs in September 2021 and the reentry takes place in early 2024. An encounter speed of 6 km/s ensures comparable results to the Stardust mission.
KW  - Interstellar dust
KW  - Cometary dust
KW  - Churyumov Gerasimenko
KW  - Interplanetary dust
KW  - IMF
KW  - Cosmic vision
KW  - Sample return
KW  - Dust collector
KW  - Mass spectrometry
Y1  - 2012
U6  - https://doi.org/10.1007/s10686-011-9285-7
SN  - 0922-6435
SN  - 1572-9508
VL  - 33
IS  - 2-3
SP  - 723
EP  - 751
PB  - SPRINGER
CY  - DORDRECHT
ER  - 
TY  - JOUR
A1  - Read, Betsy A.
A1  - Kegel, Jessica
A1  - Klute, Mary J.
A1  - Kuo, Alan
A1  - Lefebvre, Stephane C.
A1  - Maumus, Florian
A1  - Mayer, Christoph
A1  - Miller, John
A1  - Monier, Adam
A1  - Salamov, Asaf
A1  - Young, Jeremy
A1  - Aguilar, Maria
A1  - Claverie, Jean-Michel
A1  - Frickenhaus, Stephan
A1  - Gonzalez, Karina
A1  - Herman, Emily K.
A1  - Lin, Yao-Cheng
A1  - Napier, Johnathan
A1  - Ogata, Hiroyuki
A1  - Sarno, Analissa F.
A1  - Shmutz, Jeremy
A1  - Schroeder, Declan
A1  - de Vargas, Colomban
A1  - Verret, Frederic
A1  - von Dassow, Peter
A1  - Valentin, Klaus
A1  - Van de Peer, Yves
A1  - Wheeler, Glen
A1  - Dacks, Joel B.
A1  - Delwiche, Charles F.
A1  - Dyhrman, Sonya T.
A1  - Glöckner, Gernot
A1  - John, Uwe
A1  - Richards, Thomas
A1  - Worden, Alexandra Z.
A1  - Zhang, Xiaoyu
A1  - Grigoriev, Igor V.
A1  - Allen, Andrew E.
A1  - Bidle, Kay
A1  - Borodovsky, M.
A1  - Bowler, C.
A1  - Brownlee, Colin
A1  - Cock, J. Mark
A1  - Elias, Marek
A1  - Gladyshev, Vadim N.
A1  - Groth, Marco
A1  - Guda, Chittibabu
A1  - Hadaegh, Ahmad
A1  - Iglesias-Rodriguez, Maria Debora
A1  - Jenkins, J.
A1  - Jones, Bethan M.
A1  - Lawson, Tracy
A1  - Leese, Florian
A1  - Lindquist, Erika
A1  - Lobanov, Alexei
A1  - Lomsadze, Alexandre
A1  - Malik, Shehre-Banoo
A1  - Marsh, Mary E.
A1  - Mackinder, Luke
A1  - Mock, Thomas
A1  - Müller-Röber, Bernd
A1  - Pagarete, Antonio
A1  - Parker, Micaela
A1  - Probert, Ian
A1  - Quesneville, Hadi
A1  - Raines, Christine
A1  - Rensing, Stefan A.
A1  - Riano-Pachon, Diego Mauricio
A1  - Richier, Sophie
A1  - Rokitta, Sebastian
A1  - Shiraiwa, Yoshihiro
A1  - Soanes, Darren M.
A1  - van der Giezen, Mark
A1  - Wahlund, Thomas M.
A1  - Williams, Bryony
A1  - Wilson, Willie
A1  - Wolfe, Gordon
A1  - Wurch, Louie L.
T1  - Pan genome of the phytoplankton Emiliania underpins its global distribution
JF  - Nature : the international weekly journal of science
N2  - Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.
Y1  - 2013
U6  - https://doi.org/10.1038/nature12221
SN  - 0028-0836
SN  - 1476-4687
VL  - 499
IS  - 7457
SP  - 209
EP  - 213
PB  - Nature Publ. Group
CY  - London
ER  - 
TY  - JOUR
A1  - Van Hout, Cristopher V.
A1  - Tachmazidou, Ioanna
A1  - Backman, Joshua D.
A1  - Hoffman, Joshua D.
A1  - Liu, Daren
A1  - Pandey, Ashutosh K.
A1  - Gonzaga-Jauregui, Claudia
A1  - Khalid, Shareef
A1  - Ye, Bin
A1  - Banerjee, Nilanjana
A1  - Li, Alexander H.
A1  - O'Dushlaine, Colm
A1  - Marcketta, Anthony
A1  - Staples, Jeffrey
A1  - Schurmann, Claudia
A1  - Hawes, Alicia
A1  - Maxwell, Evan
A1  - Barnard, Leland
A1  - Lopez, Alexander
A1  - Penn, John
A1  - Habegger, Lukas
A1  - Blumenfeld, Andrew L.
A1  - Bai, Xiaodong
A1  - O'Keeffe, Sean
A1  - Yadav, Ashish
A1  - Praveen, Kavita
A1  - Jones, Marcus
A1  - Salerno, William J.
A1  - Chung, Wendy K.
A1  - Surakka, Ida
A1  - Willer, Cristen J.
A1  - Hveem, Kristian
A1  - Leader, Joseph B.
A1  - Carey, David J.
A1  - Ledbetter, David H.
A1  - Cardon, Lon
A1  - Yancopoulos, George D.
A1  - Economides, Aris
A1  - Coppola, Giovanni
A1  - Shuldiner, Alan R.
A1  - Balasubramanian, Suganthi
A1  - Cantor, Michael
A1  - Nelson, Matthew R.
A1  - Whittaker, John
A1  - Reid, Jeffrey G.
A1  - Marchini, Jonathan
A1  - Overton, John D.
A1  - Scott, Robert A.
A1  - Abecasis, Goncalo R.
A1  - Yerges-Armstrong, Laura M.
A1  - Baras, Aris
T1  - Exome sequencing and characterization of 49,960 individuals in the UK Biobank
JF  - Nature : the international weekly journal of science
N2  - The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. <br /> Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
KW  - clinical exome
KW  - breast-cancer
KW  - mutations
KW  - recommendations
KW  - gene
KW  - metaanalysis
KW  - variants,
KW  - BRCA1
KW  - risk
KW  - susceptibility
Y1  - 2020
U6  - https://doi.org/10.1038/s41586-020-2853-0
SN  - 0028-0836
SN  - 1476-4687
VL  - 586
IS  - 7831
SP  - 749
EP  - 756
PB  - Macmillan Publishers Limited
CY  - London
ER  - 
TY  - GEN
A1  - Nitze, Ingmar
A1  - Grosse, Guido
A1  - Jones, B. M.
A1  - Romanovsky, Vladimir E.
A1  - Boike, Julia
T1  - Author Correction: Nitze, I; Grosse, G; Jones, B.M.; Romanovsky, V.E.; Boike, J.: Remote sensing quantifies widespread abundance of permafrost region disturbances across the Arctic and Subarctic. - Nature Communications. - 9 (2018), 5423
T2  - Nature Communications
Y1  - 2019
U6  - https://doi.org/10.1038/s41467-019-08375-y
SN  - 2041-1723
VL  - 10
PB  - Nature Publ. Group
CY  - London
ER  - 
TY  - JOUR
A1  - Bertilsson, Stefan
A1  - Burgin, Amy
A1  - Carey, Cayelan C.
A1  - Fey, Samuel B.
A1  - Grossart, Hans-Peter
A1  - Grubisic, Lorena M.
A1  - Jones, Ian D.
A1  - Kirillin, Georgiy
A1  - Lennon, Jay T.
A1  - Shade, Ashley
A1  - Smyth, Robyn L.
T1  - The under-ice microbiome of seasonally frozen lakes
JF  - Limnology and oceanography
N2  - Compared to the well-studied open water of the "growing" season, under-ice conditions in lakes are characterized by low and rather constant temperature, slow water movements, limited light availability, and reduced exchange with the surrounding landscape. These conditions interact with ice-cover duration to shape microbial processes in temperate lakes and ultimately influence the phenology of community and ecosystem processes. We review the current knowledge on microorganisms in seasonally frozen lakes. Specifically, we highlight how under-ice conditions alter lake physics and the ways that this can affect the distribution and metabolism of auto-and heterotrophic microorganisms. We identify functional traits that we hypothesize are important for understanding under-ice dynamics and discuss how these traits influence species interactions. As ice coverage duration has already been seen to reduce as air temperatures have warmed, the dynamics of the under-ice microbiome are important for understanding and predicting the dynamics and functioning of seasonally frozen lakes in the near future.
Y1  - 2013
U6  - https://doi.org/10.4319/lo.2013.58.6.1998
SN  - 0024-3590
SN  - 1939-5590
VL  - 58
IS  - 6
SP  - 1998
EP  - 2012
PB  - Wiley
CY  - Waco
ER  -