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Refinado por: assunto: Genetic Variation remover
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1
Human Genome Diversity Project: An Ethnography of Scientific Practice
Human Genome Diversity Project: An Ethnography of Scientific Practice
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Human Genome Diversity Project: An Ethnography of Scientific Practice

Amade M'charek

Cambridge Cambridge University Press 2005

Acesso online. A biblioteca também possui exemplares impressos.

2
Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility
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Artigo
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Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

Cassa, Christopher A ; Savage, Sarah K ; Taylor, Patrick L ; Green, Robert C ; McGuire, Amy L ; Mandl, Kenneth D

Genome research, 2012-03, Vol.22 (3), p.421-428 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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3
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
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Artigo
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Võsa, Urmo ; Claringbould, Annique ; Bonder, Marc Jan ; Deelen, Patrick ; Zeng, Biao ; Kirsten, Holger ; Saha, Ashis ; Yazar, Seyhan ; Brugge, Harm ; Oelen, Roy ; van der Wijst, Monique G P ; Kasela, Silva ; Pervjakova, Natalia ; Alves, Isabel ; Favé, Marie-Julie ; Agbessi, Mawussé ; Christiansen, Mark W ; Jansen, Rick ; Seppälä, Ilkka ; Tong, Lin ; Teumer, Alexander ; Schramm, Katharina ; Verlouw, Joost ; Yaghootkar, Hanieh ; Sönmez Flitman, Reyhan ; Brown, Andrew ; Kukushkina, Viktorija ; Kalnapenkis, Anette ; Rüeger, Sina ; Porcu, Eleonora ; Kronberg, Jaanika ; Kettunen, Johannes ; Lee, Bernett ; Zhang, Futao ; Qi, Ting ; Hernandez, Jose Alquicira ; Arindrarto, Wibowo ; Beutner, Frank ; Dmitrieva, Julia ; Elansary, Mahmoud ; Fairfax, Benjamin P ; Georges, Michel ; Heijmans, Bastiaan T ; Hewitt, Alex W ; Kähönen, Mika ; Kim, Yungil ; Knight, Julian C ; Kovacs, Peter ; Krohn, Knut ; Li, Shuang ; Loeffler, Markus ; Marigorta, Urko M ; Mei, Hailang ; Momozawa, Yukihide ; Müller-Nurasyid, Martina ; Nauck, Matthias ; Nivard, Michel G ; Penninx, Brenda W J H ; Pritchard, Jonathan K ; Raitakari, Olli T ; Rotzschke, Olaf ; Slagboom, Eline P ; Stehouwer, Coen D A ; Stumvoll, Michael ; Sullivan, Patrick ; 't Hoen, Peter A C ; Thiery, Joachim ; Tönjes, Anke ; van Dongen, Jenny ; van Iterson, Maarten ; Völker, Uwe ; Warmerdam, Robert ; Wijmenga, Cisca ; Swertz, Morris ; Andiappan, Anand ; Montgomery, Grant W ; Ripatti, Samuli ; Perola, Markus ; Kutalik, Zoltan ; Dermitzakis, Emmanouil ; Bergmann, Sven ; Frayling, Timothy ; van Meurs, Joyce ; Prokisch, Holger ; Ahsan, Habibul ; Pierce, Brandon L ; Lehtimäki, Terho ; Psaty, Bruce M ; Gharib, Sina A ; Awadalla, Philip ; Milani, Lili ; Ouwehand, Willem H ; Downes, Kate ; Battle, Alexis ; Yang, Jian ; Scholz, Markus ; Powell, Joseph ; Gibson, Greg ; Esko, Tõnu ; Franke, Lude

Nature genetics, 2021-09, Vol.53 (9), p.1300-1310 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Common genetic variants influence human subcortical brain structures
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Artigo
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Common genetic variants influence human subcortical brain structures

Stein, Jason L ; Desrivières, Sylvane ; Toro, Roberto ; Armstrong, Nicola J ; Bernard, Manon ; Bralten, Janita ; Brown, Andrew A ; Ching, Christopher R K ; den Braber, Anouk ; Woldehawariat, Girma ; Janowitz, Deborah ; Jia, Tianye ; Lee, Phil H ; Macare, Christine ; Ramasamy, Adaikalavan ; Risacher, Shannon L ; Schmaal, Lianne ; Westlye, Lars T ; Athanasiu, Lavinia ; Hakobjan, Marina M H ; Haukvik, Unn K ; Heister, Angelien J G A M ; Hoehn, David ; Lopez, Lorna M ; Royle, Natalie A ; van Hulzen, Kimm J E ; Walton, Esther ; Ames, David ; Assareh, Amelia A ; Bastin, Mark E ; Corvin, Aiden ; de Zubicaray, Greig I ; Duggirala, Ravi ; Dyer, Thomas D ; Erk, Susanne ; Fedko, Iryna O ; Guelfi, Sebastian ; Hansell, Narelle K ; Hegenscheid, Katrin ; Heinz, Andreas ; Hoekstra, Pieter J ; Jenkinson, Mark ; Kent, Jr, Jack W ; Longo, Dan L ; Meisenzahl, Eva ; Melle, Ingrid ; Mohnke, Sebastian ; Mostert, Jeanette C ; Nalls, Michael A ; Nilsson, Lars G ; Reppermund, Simone ; Rujescu, Dan ; Schnell, Knut ; Steen, Vidar M ; Thalamuthu, Anbupalam ; Toga, Arthur W ; Troncoso, Juan ; van 't Ent, Dennis ; van der Brug, Marcel ; Veltman, Dick J ; Wassink, Thomas H ; Westman, Eric ; Zielke, Ronald H ; Ashbrook, David G ; Morris, Derek W ; Buckner, Randy L ; Dale, Anders M ; Delanty, Norman ; Kahn, René S ; Meyer-Lindenberg, Andreas ; Müller-Myhsok, Bertram ; Nyberg, Lars ; Sisodiya, Sanjay M ; van Bokhoven, Hans ; Völzke, Henry ; Weiner, Michael W ; Agartz, Ingrid ; Andreassen, Ole A ; Blangero, John ; Cannon, Dara M ; Deary, Ian J ; Fisher, Simon E ; Glahn, David C ; Grabe, Hans J ; Hulshoff Pol, Hilleke E ; Lovestone, Simon ; Mecocci, Patrizia ; McIntosh, Andrew M ; Ophoff, Roel A ; Ryten, Mina ; Wardlaw, Joanna M ; Schmidt, Reinhold ; Yanek, Lisa ; Greve, Douglas ; Nyquist, Paul ; Vinke, Louis N ; Mazoyer, Bernard ; Wright, Margaret J ; Schumann, Gunter ; Thompson, Paul M

Nature (London), 2015-04, Vol.520 (7546), p.224-229 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Public Expectations for Return of Results from Large-Cohort Genetic Research
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Artigo
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Public Expectations for Return of Results from Large-Cohort Genetic Research

Murphy, Juli ; Scott, Joan ; Kaufman, David ; Geller, Gail ; LeRoy, Lisa ; Hudson, Kathy

American journal of bioethics, 2008-11, Vol.8 (11), p.36-43 [Periódico revisado por pares]

United States: Taylor & Francis Group

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6
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
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Artigo
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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Demontis, Ditte ; Walters, Raymond K ; Martin, Joanna ; Mattheisen, Manuel ; Als, Thomas D ; Agerbo, Esben ; Baldursson, Gísli ; Belliveau, Rich ; Bybjerg-Grauholm, Jonas ; Bækvad-Hansen, Marie ; Cerrato, Felecia ; Chambert, Kimberly ; Churchhouse, Claire ; Dumont, Ashley ; Eriksson, Nicholas ; Gandal, Michael ; Goldstein, Jacqueline I ; Grasby, Katrina L ; Grove, Jakob ; Gudmundsson, Olafur O ; Hansen, Christine S ; Hauberg, Mads Engel ; Hollegaard, Mads V ; Howrigan, Daniel P ; Huang, Hailiang ; Maller, Julian B ; Martin, Alicia R ; Martin, Nicholas G ; Moran, Jennifer ; Pallesen, Jonatan ; Palmer, Duncan S ; Pedersen, Carsten Bøcker ; Pedersen, Marianne Giørtz ; Poterba, Timothy ; Poulsen, Jesper Buchhave ; Ripke, Stephan ; Robinson, Elise B ; Satterstrom, F Kyle ; Stefansson, Hreinn ; Stevens, Christine ; Turley, Patrick ; Walters, G Bragi ; Won, Hyejung ; Wright, Margaret J ; Andreassen, Ole A ; Asherson, Philip ; Burton, Christie L ; Boomsma, Dorret I ; Cormand, Bru ; Dalsgaard, Søren ; Franke, Barbara ; Gelernter, Joel ; Geschwind, Daniel ; Hakonarson, Hakon ; Haavik, Jan ; Kranzler, Henry R ; Kuntsi, Jonna ; Langley, Kate ; Lesch, Klaus-Peter ; Middeldorp, Christel ; Reif, Andreas ; Rohde, Luis Augusto ; Roussos, Panos ; Schachar, Russell ; Sklar, Pamela ; Sonuga-Barke, Edmund J S ; Sullivan, Patrick F ; Thapar, Anita ; Tung, Joyce Y ; Waldman, Irwin D ; Medland, Sarah E ; Stefansson, Kari ; Nordentoft, Merete ; Hougaard, David M ; Werge, Thomas ; Mors, Ole ; Mortensen, Preben Bo ; Daly, Mark J ; Faraone, Stephen V ; Børglum, Anders D ; Neale, Benjamin M

Nature genetics, 2019-01, Vol.51 (1), p.63-75 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
A chromosome conformation capture ordered sequence of the barley genome
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Artigo
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A chromosome conformation capture ordered sequence of the barley genome

Mascher, Martin ; Gundlach, Heidrun ; Himmelbach, Axel ; Beier, Sebastian ; Twardziok, Sven O ; Wicker, Thomas ; Radchuk, Volodymyr ; Dockter, Christoph ; Hedley, Pete E ; Russell, Joanne ; Bayer, Micha ; Ramsay, Luke ; Liu, Hui ; Haberer, Georg ; Zhang, Xiao-Qi ; Zhang, Qisen ; Barrero, Roberto A ; Li, Lin ; Taudien, Stefan ; Groth, Marco ; Felder, Marius ; Hastie, Alex ; Šimková, Hana ; Staňková, Helena ; Vrána, Jan ; Chan, Saki ; Muñoz-Amatriaín, María ; Ounit, Rachid ; Wanamaker, Steve ; Bolser, Daniel ; Colmsee, Christian ; Schmutzer, Thomas ; Aliyeva-Schnorr, Lala ; Grasso, Stefano ; Tanskanen, Jaakko ; Chailyan, Anna ; Sampath, Dharanya ; Heavens, Darren ; Clissold, Leah ; Cao, Sujie ; Chapman, Brett ; Dai, Fei ; Han, Yong ; Li, Hua ; Li, Xuan ; Lin, Chongyun ; McCooke, John K ; Tan, Cong ; Wang, Penghao ; Wang, Songbo ; Yin, Shuya ; Zhou, Gaofeng ; Poland, Jesse A ; Bellgard, Matthew I ; Borisjuk, Ljudmilla ; Houben, Andreas ; Doležel, Jaroslav ; Ayling, Sarah ; Lonardi, Stefano ; Kersey, Paul ; Langridge, Peter ; Muehlbauer, Gary J ; Clark, Matthew D ; Caccamo, Mario ; Schulman, Alan H ; Mayer, Klaus F X ; Platzer, Matthias ; Close, Timothy J ; Scholz, Uwe ; Hansson, Mats ; Zhang, Guoping ; Braumann, Ilka ; Spannagl, Manuel ; Li, Chengdao ; Waugh, Robbie ; Stein, Nils

Nature (London), 2017-04, Vol.544 (7651), p.427-433 [Periódico revisado por pares]

England: Nature Publishing Group

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8
De novo variants in neurodevelopmental disorders with epilepsy
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Artigo
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De novo variants in neurodevelopmental disorders with epilepsy

Heyne, Henrike O ; Singh, Tarjinder ; Stamberger, Hannah ; Abou Jamra, Rami ; Caglayan, Hande ; Craiu, Dana ; De Jonghe, Peter ; Guerrini, Renzo ; Helbig, Katherine L ; Koeleman, Bobby P C ; Kosmicki, Jack A ; Linnankivi, Tarja ; May, Patrick ; Muhle, Hiltrud ; Møller, Rikke S ; Neubauer, Bernd A ; Palotie, Aarno ; Pendziwiat, Manuela ; Striano, Pasquale ; Tang, Sha ; Wu, Sitao ; Poduri, Annapurna ; Weber, Yvonne G ; Weckhuysen, Sarah ; Sisodiya, Sanjay M ; Daly, Mark J ; Helbig, Ingo ; Lal, Dennis ; Lemke, Johannes R

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
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Artigo
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Harper, Andrew R ; Goel, Anuj ; Grace, Christopher ; Thomson, Kate L ; Petersen, Steffen E ; Xu, Xiao ; Waring, Adam ; Ormondroyd, Elizabeth ; Kramer, Christopher M ; Ho, Carolyn Y ; Neubauer, Stefan ; Tadros, Rafik ; Ware, James S ; Bezzina, Connie R ; Farrall, Martin ; Watkins, Hugh

Nature genetics, 2021-02, Vol.53 (2), p.135-142 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
A global reference for human genetic variation
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Artigo
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A global reference for human genetic variation

Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Garrison, Erik P ; Kang, Hyun Min ; Korbel, Jan O ; Marchini, Jonathan L ; McCarthy, Shane ; McVean, Gil A ; Abecasis, Gonçalo R

Nature (London), 2015-10, Vol.526 (7571), p.68-74 [Periódico revisado por pares]

England: Nature Publishing Group

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