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1
A global reference for human genetic variation
A global reference for human genetic variation
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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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2
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
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Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Young, Alexandra L ; Marinescu, Razvan V ; Oxtoby, Neil P ; Bocchetta, Martina ; Yong, Keir ; Firth, Nicholas C ; Cash, David M ; Thomas, David L ; Dick, Katrina M ; Cardoso, Jorge ; van Swieten, John ; Borroni, Barbara ; Galimberti, Daniela ; Masellis, Mario ; Tartaglia, Maria Carmela ; Rowe, James B ; Graff, Caroline ; Tagliavini, Fabrizio ; Frisoni, Giovanni B ; Laforce, Jr, Robert ; Finger, Elizabeth ; de Mendonça, Alexandre ; Sorbi, Sandro ; Warren, Jason D ; Crutch, Sebastian ; Fox, Nick C ; Ourselin, Sebastien ; Schott, Jonathan M ; Rohrer, Jonathan D ; Alexander, Daniel C

Nature communications, 2018-10, Vol.9 (1), p.4273-16, Article 4273 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Integrated genomic characterization of oesophageal carcinoma
Integrated genomic characterization of oesophageal carcinoma
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Integrated genomic characterization of oesophageal carcinoma

Odze, Robert D ; Meier, Samuel R ; Wu, Hsin-Ta ; Wong, Alexandra M ; McCall, Shannon J ; Wiznerowicz, Maciej ; Parfenov, Michael ; Arora, Arshi ; Weinhold, Nils ; Demchok, John ; Zenklusen, Jean Claude ; Lichtenberg, Tara M ; Curtis, Christina ; Luketich, James D ; Zhou, Zhongren ; Akbani, Rehan ; Liu, Wenbin ; Piazuelo, M. Blanca ; McLellan, Michael ; Stewart, Chip ; Gabriel, Stacey B ; McLellan, Michael D ; Appelbaum, Elizabeth L ; Cordes, Matthew G ; Fronick, Catrina C ; Fulton, Lucinda A ; Wilson, Richard K ; Balasundaram, Miruna ; Carlsen, Rebecca ; Dhalla, Noreen ; Brooks, Denise ; Mungall, Karen L ; Schein, Jacqueline E ; Sipahimalani, Payal ; Park, Peter J ; Yang, Lixing ; Baylin, Stephen B ; Bootwalla, Moiz S ; Berrios, Mario ; Holbrook, Andrea ; Hwang, Jun-Eul ; Weinstein, John N ; Seth, Sahil ; Protopopov, Alexei ; Bristow, Christopher A ; Mahadeshwar, Harshad S ; Zhang, Jianhua ; Defrietas, Timothy ; Heiman, David I ; Lawrence, Michael S ; Lin, Pei ; Zhang, Hailei ; Bernard, Brady ; Reynolds, Sheila M ; Kundra, Ritika ; Ladanyi, Marc ; Sander, Chris ; Crain, Daniel ; Shelton, Troy ; Frick, Jessica ; Leraas, Kristen M ; Tarvin, Katherine ; Saller, Charles ; Park, Young Soo ; de Oliveira, Antonio Talvane ; Paklina, Oxana ; Lee, Jae-Hyuck ; Bennett, Joseph ; Iacocca, Mary ; Voronina, Olga ; Liu, Ouida ; Cates, Crystal ; Sharp, Alexis ; Behera, Madhusmitara ; Pickens, Allan ; Ramalingam, Suresh ; Sica, Gabriel ; Dinjens, Winand ; Juhl, Hartmut ; Bartlett, John ; Parfitt, Jeremy ; Darling, Gail ; El-Zimaity, Haila ; Kemp, Rafael ; Sankarankutty, Ajith Kumar ; Trevisan, Felipe Amstalden ; Godwin, Andrew ; Ferrer-Torres, Daysha ; Vinco, Michele ; Ajani, Jaffer A ; Tang, Laura ; Cheong, Jae-Ho ; Naresh, Rashi ; Sun, Qiang ; Demchok, John A ; Shaw, Kenna R. Mills ; Wang, Zhining ; Yang, Liming ; Sofia, Heidi J ; Zhang, Jiashan

Nature (London), 2017-01, Vol.541 (7636), p.169-175 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, Daniel ; Kessler, Michael D ; Carlson, Jedidiah ; Taliun, Sarah A Gagliano ; Kang, Hyun Min ; Tian, Xiaowen ; Browning, Brian L ; Clarke, Wayne E ; Loesch, Douglas P ; Shetty, Amol C ; Blackwell, Thomas W ; Smith, Albert V ; Liu, Xiaoming ; Conomos, Matthew P ; Bobo, Dean M ; Aguet, François ; Arking, Dan E ; Aslibekyan, Stella ; Auer, Paul L ; Barnard, John ; Barr, R Graham ; Barwick, Lucas ; Becker, Lewis C ; Bielak, Lawrence F ; Bowden, Donald W ; Brody, Jennifer A ; Burchard, Esteban G ; Cade, Brian E ; Chasman, Daniel I ; Chen, Yii-Der Ida ; Choi, Seung Hoan ; Chung, Mina K ; Correa, Adolfo ; Curran, Joanne E ; Custer, Brian ; Daya, Michelle ; DeMeo, Dawn L ; Ellinor, Patrick T ; Eng, Celeste ; Fingerlin, Tasha ; Forer, Lukas ; Fullerton, Stephanie M ; Germer, Soren ; Gottlieb, Daniel J ; Guo, Xiuqing ; He, Jiang ; Heckbert, Susan R ; Kelly, Tanika ; Kelly, Shannon ; Kenny, Eimear E ; Klemmer, Robert ; Konkle, Barbara A ; Kooperberg, Charles ; Köttgen, Anna ; Lasky-Su, Jessica ; Levy, Daniel ; Lin, Xihong ; Liu, Chunyu ; Lubitz, Steven A ; Mak, Angel C Y ; Manichaikul, Ani ; Manning, Alisa K ; Mathias, Rasika A ; McManus, David D ; Meigs, James B ; Meyers, Deborah A ; Montasser, May E ; Montgomery, Courtney ; Morrison, Alanna C ; Murabito, Joanne M ; Nelson, Sarah C ; North, Kari E ; Peloso, Gina M ; Peyser, Patricia A ; Post, Wendy S ; Rao, D C ; Redline, Susan ; Roden, Dan ; Sarnowski, Chloé ; Schwartz, David A ; Sheehan, Vivien A ; Smith, Nicholas L ; Smith, Jennifer A ; Sotoodehnia, Nona ; Tang, Weihong ; Taylor, Kent D ; Telen, Marilyn ; Tracy, Russell P ; Vasan, Ramachandran S ; Viaud-Martinez, Karine A ; Vrieze, Scott ; Weeks, Daniel E ; Weiss, Scott T ; Gan, Weiniu ; Nickerson, Deborah A ; Browning, Sharon R ; Wilson, James G ; Laurie, Cathy C ; Hernandez, Ryan D ; Abecasis, Gonçalo R

Nature (London), 2021-02, Vol.590 (7845), p.290-299 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Machine learning reveals limited contribution of trans-only encoded variants to the HLA-DQ immunopeptidome
Machine learning reveals limited contribution of trans-only encoded variants to the HLA-DQ immunopeptidome
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Machine learning reveals limited contribution of trans-only encoded variants to the HLA-DQ immunopeptidome

Nilsson, Jonas Birkelund ; Kaabinejadian, Saghar ; Yari, Hooman ; Peters, Bjoern ; Barra, Carolina ; Gragert, Loren ; Hildebrand, William ; Nielsen, Morten

Communications biology, 2023-04, Vol.6 (1), p.442-442, Article 442 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Chronic disease outcome metadata from German observational studies - public availability and FAIR principles
Chronic disease outcome metadata from German observational studies - public availability and FAIR principles
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Chronic disease outcome metadata from German observational studies - public availability and FAIR principles

Schwedhelm, Carolina ; Nimptsch, Katharina ; Ahrens, Wolfgang ; Hasselhorn, Hans Martin ; Jöckel, Karl-Heinz ; Katzke, Verena ; Kluttig, Alexander ; Linkohr, Birgit ; Mikolajczyk, Rafael ; Nöthlings, Ute ; Perrar, Ines ; Peters, Annette ; Schmidt, Carsten O ; Schmidt, Börge ; Schulze, Matthias B ; Stang, Andreas ; Zeeb, Hajo ; Pischon, Tobias

Scientific data, 2023-12, Vol.10 (1), p.868-868, Article 868 [Periódico revisado por pares]

England: Nature Publishing Group

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7
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes
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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Giambartolomei, Claudia ; de Vries, Paul S ; Huntley, Rachael P ; Lovering, Ruth C ; Winkler, Thomas W ; Graff, Misa ; Kavousi, Maryam ; Dale, Caroline ; Smith, Albert V ; Hofer, Edith ; Nolte, Ilja M ; Lu, Lingyi ; Scholz, Markus ; Sargurupremraj, Muralidharan ; Pitkänen, Niina ; Marioni, Riccardo E ; Musani, Solomon K ; Schminke, Ulf ; Palmas, Walter ; Isaacs, Aaron ; Correa, Adolfo ; Teumer, Alexander ; Uitterlinden, André G ; Wong, Andrew ; Newman, Anne B ; Britton, Annie ; Ruusalepp, Arno ; Sennblad, Bengt ; Hedblad, Bo ; Langefeld, Carl D ; Wassel, Christina L ; Fava, Cristiano ; O'Leary, Daniel H ; Teupser, Daniel ; Kuh, Diana ; Tremoli, Elena ; Boerwinkle, Eric ; Schadt, Eric E ; Rivadeneira, Fernando ; Beutner, Frank ; Chauhan, Ganesh ; Snieder, Harold ; Campbell, Harry ; Markus, Hugh S ; Jukema, J Wouter ; Hopewell, Jemma C ; Thiery, Joachim ; Rice, Kenneth ; Dhana, Klodian ; Lind, Lars ; Raffield, Laura M ; Launer, Lenore J ; Holdt, Lesca M ; Dichgans, Martin ; Traylor, Matthew ; Sitzer, Matthias ; Kumari, Meena ; Melander, Olle ; Raitakari, Olli ; Franco, Oscar H ; Rueda-Ochoa, Oscar L ; Roussos, Panos ; Whincup, Peter H ; Giral, Philippe ; Anugu, Pramod ; Malik, Rainer ; Rauramaa, Rainer ; Hardy, Rebecca ; Schmidt, Reinhold ; Strawbridge, Rona J ; Shah, Sonia ; McLachlan, Stela ; Trompet, Stella ; Ring, Susan ; Harris, Tamara B ; Galesloot, Tessel E ; Plagnol, Vincent ; Rosamond, Wayne D ; Post, Wendy ; Zhu, Xiaofeng ; Zhang, Xiaoling ; Guo, Xiuqing ; Saba, Yasaman ; Seldenrijk, Adrie ; Hamsten, Anders ; Mook-Kanamori, Dennis O ; Bowden, Donald W ; Schmidt, Helena ; Wilson, James F ; Wilson, James G ; Deanfield, John ; Halcox, Julian ; Lyytikäinen, Leo-Pekka ; Loeffler, Markus ; Evans, Michele K ; Debette, Stéphanie ; Völker, Uwe ; Gudnason, Vilmundur ; Casas, Juan P ; O'Donnell, Christopher J

Nature communications, 2018-12, Vol.9 (1), p.5141-14, Article 5141 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Ecological modeling, biogeography, and phenotypic analyses setting the tiger cats' hyperdimensional niches reveal a new species
Ecological modeling, biogeography, and phenotypic analyses setting the tiger cats' hyperdimensional niches reveal a new species
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Ecological modeling, biogeography, and phenotypic analyses setting the tiger cats' hyperdimensional niches reveal a new species

de Oliveira, Tadeu G ; Fox-Rosales, Lester A ; Ramírez-Fernández, José D ; Cepeda-Duque, Juan C ; Zug, Rebecca ; Sanchez-Lalinde, Catalina ; Oliveira, Marcelo J R ; Marinho, Paulo H D ; Bonilla-Sánchez, Alejandra ; Marques, Mara C ; Cassaro, Katia ; Moreno, Ricardo ; Rumiz, Damián ; Peters, Felipe B ; Ortega, Josué ; Cavalcanti, Gitana ; Mooring, Michael S ; Blankenship, Steven R ; Brenes-Mora, Esteban ; Dias, Douglas ; Mazim, Fábio D ; Eizirik, Eduardo ; Diehl, Jaime L ; Marques, Rosane V ; Ribeiro, Ana Carolina C ; Cruz, Reginaldo A ; Pasa, Emanuelle ; Meira, Lyse P C ; Pereira, Alex ; Ferreira, Guilherme B ; de Pinho, Fernando F ; Sena, Liana M M ; de Morais, Vinícius R ; Ribeiro Luiz, Micheli ; Moura, Vitor E C ; Favarini, Marina O ; Leal, Karla P G ; Wagner, Paulo G C ; Dos Santos, Maurício C ; Sanderson, James ; Araújo, Elienê P ; Rodrigues, Flávio H G

Scientific reports, 2024-01, Vol.14 (1), p.2395-2395, Article 2395 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Hogarth, Marshall W ; Houweling, Peter J ; Thomas, Kristen C ; Gordish-Dressman, Heather ; Bello, Luca ; Pegoraro, Elena ; Hoffman, Eric P ; Head, Stewart I ; North, Kathryn N

Nature communications, 2017-01, Vol.8 (1), p.14143-14143, Article 14143 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Burton, Paul R ; Clayton, David G ; Cardon, Lon R ; Craddock, Nick ; Deloukas, Panos ; Duncanson, Audrey ; Kwiatkowski, Dominic P ; McCarthy, Mark I ; Ouwehand, Willem H ; Samani, Nilesh J ; Todd, John A ; Donnelly, Peter ; Barrett, Jeffrey C

Nature, 2007-06, Vol.447 (7145), p.661-678 [Periódico revisado por pares]

London: Nature Publishing

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