未登录Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting
Samani, Nilesh J.; Beeston, Emma; Greengrass, Chris; Riveros-McKay, Fernando; Debiec, Radoslaw; Lawday, Daniel; Wang, Qingning; Budgeon, Charley A.; Braund, Peter S.; Bramley, Richard; Kharodia, Shireen; Newton, Michelle; Marshall, Andrea; Krzeminski, Andre; Zafar, Azhar; Chahal, Anuj; Heer, Amadeeep; Khunti, Kamlesh; Joshi, Nitin; Lakhani, Mayur; Farooqi, Azhar; Plagnol, Vincent; Donnelly, Peter; Weale, Michael E.; Nelson, Christopher P.
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收藏A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting添加到qri确定的多基因风险评分®2心血管疾病风险计算器在初级保健环境中显示出强大的临床接受度和临床实用性
Fuat, Ahmet; Adlen, Ella; Monane, Mark; Coll, Ruth; Groves, Sarah; Little, Elizabeth; Wild, Jonathan; Kamali, Farzan J.; Soni, Yusuf; Haining, Shona; Riding, Helen; Riveros-Mckay, Fernando; Peneva, Iliana; Lachapelle, Alexander; Giner-Delgado, Carla; Weale, Michael E.; Plagnol, Vincent; Harrison, Seamus; Donnelly, Peter
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收藏Development of the HT&Me intervention to support women with breast cancer to adhere to adjuvant endocrine therapy and improve quality of life
Stewart, Sarah-Jane F.; Slodkowska-Barabasz, Joanna; McGeagh, Lucy; Moon, Zoe; Brett, Jo; Wells, Mary; Brown, Morven C.; Turner, Mark; Horne, Robert; Fenlon, Deborah; Rehman, Farah; Cain, Henry; Donnelly, Peter; Harmer, Victoria; Turner, Lesley; Rose, Jan; Sharp, Linda; Watson, Eila; SWEET Res Team
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收藏Genotyping and population characteristics of the China Kadoorie Biobank中国嘉道理生物银行的基因分型和种群特征
Walters, Robin G.; Millwood, Iona Y.; Lin, Kuang; Valle, Dan Schmidt; McDonnell, Pandora; Hacker, Alex; Avery, Daniel; Edris, Ahmed; Fry, Hannah; Cai, Na; Kretzschmar, Warren W.; Ansari, M. Azim; Lyons, Paul A.; Collins, Rory; Donnelly, Peter; Hill, Michael; Peto, Richard; Shen, Hongbing; Jin, Xin; Nie, Chao; Xu, Xun; Guo, Yu; Yu, Canqing; Lv, Jun; Clarke, Robert J.; Li, Liming; Chen, Zhengming
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收藏Altering the Binding Properties of PRDM9 Partially Restores Fertility across the Species Boundary
Davies, Benjamin; Gupta Hinch, Anjali; Cebrian-Serrano, Alberto; Alghadban, Samy; Becker, Philipp W.; Biggs, Daniel; Hernandez-Pliego, Polinka; Preece, Chris; Moralli, Daniela; Zhang, Gang; Myers, Simon; Donnelly, Peter
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收藏The Configuration of RPA, RAD51, and DMC1 Binding in Meiosis Reveals the Nature of Critical Recombination Intermediates
Hinch, Anjali Gupta; Becker, Philipp W.; Li, Tao; Moralli, Daniela; Zhang, Gang; Bycroft, Clare; Green, Catherine; Keeney, Scott; Shi, Qinghua; Davies, Benjamin; Donnelly, Peter
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收藏Sequencing of human genomes with nanopore technology
Bowden, Rory; Davies, Robert W.; Heger, Andreas; Pagnamenta, Alistair T.; de Cesare, Mariateresa; Oikkonen, Laura E.; Parkes, Duncan; Freeman, Colin; Dhalla, Fatima; Patel, Smita Y.; Popitsch, Niko; Ip, Camilla L. C.; Roberts, Hannah E.; Salatino, Silvia; Lockstone, Helen; Lunter, Gerton; Taylor, Jenny C.; Buck, David; Simpson, Michael A.; Donnelly, Peter
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收藏Phenome-wide association studies across large population cohorts support drug target validation跨大人群队列的全表型组关联研究支持药物靶标验证
Diogo, Dorothee; Tian, Chao; Franklin, Christopher S.; Alanne-Kinnunen, Mervi; March, Michael; Spencer, Chris C. A.; Vangjeli, Ciara; Weale, Michael E.; Mattsson, Hannele; Kilpelainen, Elina; Sleiman, Patrick M. A.; Reilly, Dermot F.; McElwee, Joshua; Maranville, Joseph C.; Chatterjee, Arnaub K.; Bhandari, Aman; Nguyen, Khanh-Dung H.; Estrada, Karol; Reeve, Mary-Pat; Hutz, Janna; Bing, Nan; John, Sally; Macarthur, Daniel G.; Salomaa, Veikko; Ripatti, Samuli; Hakonarson, Hakon; Daly, Mark J.; Palotie, Aarno; Hinds, David A.; Donnelly, Peter; Fox, Caroline S.; Day-Williams, Aaron G.; Plenge, Robert M.; Runz, Heiko
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收藏Long-read whole genome sequencing and comparative analysis of six strains of the human pathogen Orientia tsutsugamushi
Batty, Elizabeth M.; Chaemchuen, Suwittra; Blacksell, Stuart; Richards, Allen L.; Paris, Daniel; Bowden, Rory; Chan, Caroline; Lachumanan, Ramkumar; Day, Nicholas; Donnelly, Peter; Chen, Swaine; Salje, Jeanne
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收藏Insights into Platypus Population Structure and History from Whole-Genome Sequencing从全基因组测序洞察鸭嘴兽种群结构和历史
Martin, Hilary C.; Batty, Elizabeth M.; Hussin, Julie; Westall, Portia; Daish, Tasman; Kolomyjec, Stephen; Piazza, Paolo; Bowden, Rory; Hawkins, Margaret; Grant, Tom; Moritz, Craig; Grutzner, Frank; Gongora, Jaime; Donnelly, Peter
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收藏A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability
Davies, Benjamin; Brown, Laurence A.; Cais, Ondrej; Watson, Jake; Clayton, Amber J.; Chang, Veronica T.; Biggs, Daniel; Preece, Christopher; Hernandez-Pliego, Polinka; Krohn, Jon; Bhomra, Amarjit; Twigg, Stephen R. F.; Rimmer, Andrew; Kanapin, Alexander; Sen, Arjune; Zaiwalla, Zenobia; McVean, Gil; Foster, Russell; Donnelly, Peter; Taylor, Jenny C.; Blair, Edward; Nutt, David; Aricescu, A. Radu; Greger, Ingo H.; Peirson, Stuart N.; Flint, Jonathan; Martin, Hilary C.
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收藏An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans欧洲人2型糖尿病的扩展全基因组关联研究
Scott, Robert A.; Scott, Laura J.; Maegi, Reedik; Marullo, Letizia; Gaulton, Kyle J.; Kaakinen, Marika; Pervjakova, Natalia; Pers, Tune H.; Johnson, Andrew D.; Eicher, John D.; Jackson, Anne U.; Ferreira, Teresa; Lee, Yeji; Ma, Clement; Steinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Qi, Lu; Van Zuydam, Natalie R.; Mahajan, Anubha; Chen, Han; Almgren, Peter; Voight, Ben F.; Grallert, Harald; Mueller-Nurasyid, Martina; Ried, Janina S.; Rayner, Nigel W.; Robertson, Neil; Karssen, Lennart C.; Van Leeuwen, Elisabeth M.; Willems, Sara M.; Fuchsberger, Christian; Kwan, Phoenix; Teslovich, Tanya M.; Chanda, Pritam; Li, Man; Lu, Yingchang; Dina, Christian; Thuillier, Dorothee; Yengo, Loic; Jiang, Longda; Sparso, Thomas; Kestler, Hans A.; Chheda, Himanshu; Eisele, Lewin; Gustafsson, Stefan; Franberg, Mattias; Strawbridge, Rona J.; Benediktsson, Rafn; Hreidarsson, Astradur B.; Kong, Augustine; Sigurdsson, Gunnar; Kerrison, Nicola D.; Luan, Jian'an; Liang, Liming; Meitinger, Thomas; Roden, Michael; Thorand, Barbara; Esko, Tonu; Mihailov, Evelin; Fox, Caroline; Liu, Ching-Ti; Rybin, Denis; Isomaa, Bo; Lyssenko, Valeriya; Tuomi, Tiinamaija; Couper, David J.; Pankow, James S.; Grarup, Niels; Have, Christian T.; Jorgensen, Marit E.; Jorgensen, Torben; Linneberg, Allan; Cornelis, Marilyn C.; Van Dam, Rob M.; Hunter, David J.; Kraft, Peter; Sun, Qi; Edkins, Sarah; Owen, Katharine R.; Perry, John R. B.; Wood, Andrew R.; Zeggini, Eleftheria; Tajes-Fernandes, Juan; Abecasis, Goncalo R.; Bonnycastle, Lori L.; Chines, Peter S.; Stringham, Heather M.; Koistinen, Heikki A.; Kinnunen, Leena; Sennblad, Bengt; Muehleisen, Thomas W.; Noethen, Markus M.; Pechlivanis, Sonali; Baldassarre, Damiano; Gertow, Karl; Humphries, Steve E.; Tremoli, Elena; Klopp, Norman; Meyer, Julia; Steinbach, Gerald; Wennauer, Roman; Eriksson, Johan G.; Mannisto, Satu; Peltonen, Leena; Tikkanen, Emmi; Charpentier, Guillaume; Eury, Elodie; Lobbens, Stephane; Gigante, Bruna; Leander, Karin; McLeod, Olga; Bottinger, Erwin P.; Gottesman, Omri; Ruderfer, Douglas; Blueher, Matthias; Kovacs, Peter; Tonjes, Anke; Maruthur, Nisa M.; Scapoli, Chiara; Erbel, Raimund; Joeckel, Karl-Heinz; Moebus, Susanne; De Faire, Ulf; Hamsten, Anders; Stumvoll, Michael; Deloukas, Panagiotis; Donnelly, Peter J.; Frayling, Timothy M.; Hattersley, Andrew T.; Ripatti, Samuli; Salomaa, Veikko; Pedersen, Nancy L.; Boehm, Bernhard O.; Bergman, Richard N.; Collins, Francis S.; Mohlke, Karen L.; Tuomilehto, Jaakko; Hansen, Torben; Pedersen, Oluf; Barroso, Ines; Lannfelt, Lars; Ingelsson, Erik; Lind, Lars; Lindgren, Cecilia M.; Cauchi, Stephane; Froguel, Philippe; Loos, Ruth J. F.; Balkau, Beverley; Boeing, Heiner; Franks, Paul W.; Gurrea, Aurelio Barricarte; Palli, Domenico; Van der Schouw, Yvonne T.; Altshuler, David; Groop, Leif C.; Langenberg, Claudia; Wareham, Nicholas J.; Sijbrands, Eric; Van Duijn, Cornelia M.; Florez, Jose C.; Meigs, James B.; Boerwinkle, Eric; Gieger, Christian; Strauch, Konstantin; Metspalu, Andres; Morris, Andrew D.; Palmer, Colin N. A.; Hu, Frank B.; Thorsteinsdottir, Unnur; Stefansson, Kari; Dupuis, Josee; Morris, Andrew P.; Boehnke, Michael; McCarthy, Mark I.; Prokopenko, Inga
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收藏A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk在芬兰人群中富集的低频失活AKT2变体与空腹胰岛素水平和2型糖尿病风险相关
Manning, Alisa; Highland, Heather M.; Gasser, Jessica; Sim, Xueling; Tukiainen, Taru; Fontanillas, Pierre; Grarup, Niels; Rivas, Manuel A.; Mahajan, Anubha; Locke, Adam E.; Cingolani, Pablo; Pers, Tune H.; Vinuela, Ana; Brown, Andrew A.; Wu, Ying; Flannick, Jason; Fuchsberger, Christian; Gamazon, Eric R.; Gaulton, Kyle J.; Im, Hae Kyung; Teslovich, Tanya M.; Blackwell, Thomas W.; Bork-Jensen, Jette; Burtt, Noel P.; Chen, Yuhui; Green, Todd; Hartl, Christopher; Kang, Hyun Min; Kumar, Ashish; Ladenvall, Claes; Ma, Clement; Moutsianas, Loukas; Pearson, Richard D.; Perry, John R. B.; Rayner, N. William; Robertson, Neil R.; Scott, Laura J.; van de Bunt, Martijn; Eriksson, Johan G.; Jula, Antti; Koskinen, Seppo; Lehtimaki, Terho; Palotie, Aarno; Raitakari, Olli T.; Jacobs, Suzanne B. R.; Wessel, Jennifer; Chu, Audrey Y.; Scott, Robert A.; Goodarzi, Mark O.; Blancher, Christine; Buck, Gemma; Buck, David; Chines, Peter S.; Gabriel, Stacey; Gjesing, Anette P.; Groves, Christopher J.; Hollensted, Mette; Huyghe, Jeroen R.; Jackson, Anne U.; Jun, Goo; Justesen, Johanne Marie; Mangino, Massimo; Murphy, Jacquelyn; Neville, Matt; Onofrio, Robert; Small, Kerrin S.; Stringham, Heather M.; Trakalo, Joseph; Banks, Eric; Carey, Jason; Carneiro, Mauricio O.; DePristo, Mark; Farjoun, Yossi; Fennell, Timothy; Goldstein, Jacqueline I.; Grant, George; de Angelis, Martin Hrabe; Maguire, Jared; Neale, Benjamin M.; Poplin, Ryan; Purcell, Shaun; Schwarzmayr, Thomas; Shakir, Khalid; Smith, Joshua D.; Strom, Tim M.; Wieland, Thomas; Lindstrom, Jaana; Brandslund, Ivan; Christensen, Cramer; Surdulescu, Gabriela L.; Lakka, Timo A.; Doney, Alex S. F.; Nilsson, Peter; Wareham, Nicholas J.; Langenberg, Claudia; Varga, Tibor V.; Franks, Paul W.; Rolandsson, Olov; Rosengren, Anders H.; Farook, Vidya S.; Thameem, Farook; Puppala, Sobha; Kumar, Satish; Lehman, Donna M.; Jenkinson, Christopher P.; Curran, Joanne E.; Hale, Daniel Esten; Fowler, Sharon P.; Arya, Rector; DeFronzo, Ralph A.; Abboud, Hanna E.; Syvanen, Ann-Christine; Hicks, Pamela J.; Palmer, Nicholette D.; Ng, Maggie C. Y.; Bowden, Donald W.; Freedman, Barry I.; Esko, Tonu; Magi, Reedik; Milani, Lili; Mihailov, Evelin; Metspalu, Andres; Narisu, Narisu; Kinnunen, Leena; Bonnycastle, Lori L.; Swift, Amy; Pasko, Dorota; Wood, Andrew R.; Fadista, Joao; Pollin, Toni I.; Barzilai, Nir; Atzmon, Gil; Glaser, Benjamin; Thorand, Barbara; Strauch, Konstantin; Peters, Annette; Roden, Michael; Mueller-Nurasyid, Martina; Liang, Liming; Kriebel, Jennifer; Illig, Thomas; Grallert, Harald; Gieger, Christian; Meisinger, Christa; Lannfelt, Lars; Musani, Solomon K.; Griswold, Michael; Taylor, Herman A., Jr.; Wilson, Gregory, Sr.; Correa, Adolfo; Oksa, Heikki; Scott, William R.; Afzal, Uzma; Tan, Sian-Tsung; Loh, Marie; Chambers, John C.; Sehmi, Jobanpreet; Kooner, Jaspal Singh; Lehne, Benjamin; Cho, Yoon Shin; Lee, Jong-Young; Han, Bok-Ghee; Karajamaki, Annemari; Qi, Qibin; Qi, Lu; Huang, Jinyan; Hu, Frank B.; Melander, Olle; Orho-Melander, Marju; Below, Jennifer E.; Aguilar, David; Wong, Tien Yin; Liu, Jianjun; Khor, Chiea-Chuen; Chia, Kee Seng; Lim, Wei Yen; Cheng, Ching-Yu; Chan, Edmund; Tai, E. Shyong; Aung, Tin; Linneberg, Allan; Isomaa, Bo; Meitinger, Thomas; Tuomi, Tiinamaija; Hakaste, Liisa; Kravic, Jasmina; Jorgensen, Marit E.; Lauritzen, Torsten; Deloukas, Panos; Stirrups, Kathleen E.; Owen, Katharine R.; Farmer, Andrew J.; Frayling, Timothy M.; O'Rahilly, Stephen P.; Walker, Mark; Levy, Jonathan C.; Hodgkiss, Dylan; Hattersley, Andrew T.; Kuulasmaa, Teemu; Stancakova, Alena; Barroso, Ines; Bharadwaj, Dwaipayan; Chan, Juliana; Chandak, Giriraj R.; Daly, Mark J.; Donnelly, Peter J.; Ebrahim, Shah B.; Elliott, Paul; Fingerlin, Tasha; Froguel, Philippe; Hu, Cheng; Jia, Weiping; Ma, Ronald C. W.; McVean, Gilean; Park, Taesung; Prabhakaran, Dorairaj; Sandhu, Manjinder; Scott, James; Sladek, Rob; Tandon, Nikhil; Teo, Yik Ying; Zeggini, Eleftheria; Watanabe, Richard M.; Koistinen, Heikki A.; Kesaniemi, Y. Antero; Uusitupa, Matti; Spector, Timothy D.; Salomaa, Veikko; Rauramaa, Rainer; Palmer, Colin N. A.; Prokopenko, Inga; Morris, Andrew D.; Bergman, Richard N.; Collins, Francis S.; Lind, Lars; Ingelsson, Erik; Tuomilehto, Jaakko; Karpe, Fredrik; Groop, Leif; Jorgensen, Torben; Hansen, Torben; Pedersen, Oluf; Kuusisto, Johanna; Abecasis, GonOalo; Bell, Graeme I.; Blangero, John; Cox, Nancy J.; Duggirala, Ravindranath; Seielstad, Mark; Wilson, James G.; Dupuis, Josee; Ripatti, Samuli; Hanis, Craig L.; Florez, Jose C.; Mohlke, Karen L.; Meigs, James B.; Laakso, Markku; Morris, Andrew P.; Boehnke, Michael; Altshuler, David; McCarthy, Mark I.; Gloyn, Anna L.; Lindgren, Cecilia M.
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