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Comprehensive molecular characterization of mitochondrial genomes in human cancers
Comprehensive molecular characterization of mitochondrial genomes in human cancers
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Comprehensive molecular characterization of mitochondrial genomes in human cancers

Yuan, Yuan ; Ju, Young Seok ; Kim, Youngwook ; Li, Jun ; Wang, Yumeng ; Yoon, Christopher J ; Yang, Yang ; Martincorena, Inigo ; Creighton, Chad J ; Weinstein, John N ; Xu, Yanxun ; Han, Leng ; Kim, Hyung-Lae ; Nakagawa, Hidewaki ; Park, Keunchil ; Campbell, Peter J ; Liang, Han

Nature genetics, 2020-03, Vol.52 (3), p.342-352 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
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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3
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, Ruth ; Sabir, Marya S ; Saez-Atienzar, Sara ; Gustavsson, Emil ; Walton, Ronald L ; Ahmed, Sarah ; Makarious, Mary B ; Diez-Fairen, Monica ; Portley, Makayla K ; Shah, Zalak ; Hernandez, Dena G ; Blauwendraat, Cornelis ; Stone, David J ; Eicher, John ; Parkkinen, Laura ; Ansorge, Olaf ; Honig, Lawrence S ; Marder, Karen ; Lemstra, Afina ; Londos, Elisabet ; Morgan, Kevin ; Warner, Thomas T ; Jaunmuktane, Zane ; Galasko, Douglas ; Tienari, Pentti J ; Oinas, Minna ; Morris, John C ; Halliday, Glenda M ; Van Deerlin, Vivianna M ; Trojanowski, John Q ; Calvo, Andrea ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C ; Gan-Or, Ziv ; Geiger, Joshua T ; Krüger, Rejko ; Lopez, Grisel ; Sidransky, Ellen ; Norcliffe-Kaufmann, Lucy ; Kaufmann, Horacio ; Shakkottai, Vikram G ; Perkins, Matthew ; Newell, Kathy L ; Gasser, Thomas ; Schulte, Claudia ; Landi, Francesco ; Cusi, Daniele ; Monuki, Edwin S ; Brunetti, Maura ; Dawson, Ted M ; Rosenthal, Liana S ; Pletnikova, Olga ; Flanagan, Margaret E ; Rodríguez-Rodríguez, Eloy ; Infante, Jon ; Lage, Carmen ; Black, Sandra E ; Masellis, Mario ; Rogaeva, Ekaterina ; Duyckaerts, Charles ; Brice, Alexis ; Tilley, Bension S ; Gentleman, Steve ; Logroscino, Giancarlo ; Serrano, Geidy E ; Beach, Thomas G ; McKeith, Ian G ; Morris, Christopher M ; Al-Sarraj, Safa ; Hodges, Angela K ; Aarsland, Dag ; Klein, Gregory ; Kaiser, Scott M ; Woltjer, Randy ; Bekris, Lynn M ; Leverenz, James B ; Besser, Lilah M ; Kuzma, Amanda ; Morris, Huw R ; Albani, Diego ; Pickering-Brown, Stuart ; Faber, Kelley ; Morenas-Rodriguez, Estrella ; Fortea, Juan ; Alcolea, Daniel ; Nalls, Mike A ; Ferrucci, Luigi ; Resnick, Susan M ; Foroud, Tatiana M ; Graff-Radford, Neill R ; Ferman, Tanis ; Hardy, John A ; Torkamani, Ali ; Ryten, Mina ; Chiò, Adriano ; Ross, Owen A ; Gibbs, J Raphael ; Dalgard, Clifton L ; Traynor, Bryan J

Nature genetics, 2021-03, Vol.53 (3), p.294-303 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology
Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology
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Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology

Plassais, Jocelyn ; Kim, Jaemin ; Davis, Brian W ; Karyadi, Danielle M ; Hogan, Andrew N ; Harris, Alex C ; Decker, Brennan ; Parker, Heidi G ; Ostrander, Elaine A

Nature communications, 2019-04, Vol.10 (1), p.1489-1489, Article 1489 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Li, Xihao ; Li, Zilin ; Zhou, Hufeng ; Gaynor, Sheila M ; Liu, Yaowu ; Chen, Han ; Sun, Ryan ; Dey, Rounak ; Arnett, Donna K ; Aslibekyan, Stella ; Ballantyne, Christie M ; Bielak, Lawrence F ; Blangero, John ; Boerwinkle, Eric ; Bowden, Donald W ; Broome, Jai G ; Conomos, Matthew P ; Correa, Adolfo ; Cupples, L Adrienne ; Curran, Joanne E ; Freedman, Barry I ; Guo, Xiuqing ; Hindy, George ; Irvin, Marguerite R ; Kardia, Sharon L R ; Kathiresan, Sekar ; Khan, Alyna T ; Kooperberg, Charles L ; Laurie, Cathy C ; Liu, X Shirley ; Mahaney, Michael C ; Manichaikul, Ani W ; Martin, Lisa W ; Mathias, Rasika A ; McGarvey, Stephen T ; Mitchell, Braxton D ; Montasser, May E ; Moore, Jill E ; Morrison, Alanna C ; O'Connell, Jeffrey R ; Palmer, Nicholette D ; Pampana, Akhil ; Peralta, Juan M ; Peyser, Patricia A ; Psaty, Bruce M ; Redline, Susan ; Rice, Kenneth M ; Rich, Stephen S ; Smith, Jennifer A ; Tiwari, Hemant K ; Tsai, Michael Y ; Vasan, Ramachandran S ; Wang, Fei Fei ; Weeks, Daniel E ; Weng, Zhiping ; Wilson, James G ; Yanek, Lisa R ; Neale, Benjamin M ; Sunyaev, Shamil R ; Abecasis, Gonçalo R ; Rotter, Jerome I ; Willer, Cristen J ; Peloso, Gina M ; Natarajan, Pradeep ; Lin, Xihong

Nature genetics, 2020-09, Vol.52 (9), p.969-983 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Sequencing of human genomes with nanopore technology
Sequencing of human genomes with nanopore technology
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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

Nature communications, 2019-04, Vol.10 (1), p.1869-9, Article 1869 [Periódico revisado por pares]

England: Nature Publishing Group

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8
The evolutionary history of 2,658 cancers
The evolutionary history of 2,658 cancers
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The evolutionary history of 2,658 cancers

Gerstung, Moritz ; Jolly, Clemency ; Leshchiner, Ignaty ; Dentro, Stefan C ; Gonzalez, Santiago ; Rosebrock, Daniel ; Mitchell, Thomas J ; Rubanova, Yulia ; Anur, Pavana ; Yu, Kaixian ; Tarabichi, Maxime ; Deshwar, Amit ; Wintersinger, Jeff ; Kleinheinz, Kortine ; Vázquez-García, Ignacio ; Haase, Kerstin ; Jerman, Lara ; Sengupta, Subhajit ; Macintyre, Geoff ; Malikic, Salem ; Donmez, Nilgun ; Livitz, Dimitri G ; Cmero, Marek ; Demeulemeester, Jonas ; Schumacher, Steven ; Fan, Yu ; Yao, Xiaotong ; Lee, Juhee ; Schlesner, Matthias ; Boutros, Paul C ; Bowtell, David D ; Zhu, Hongtu ; Getz, Gad ; Imielinski, Marcin ; Beroukhim, Rameen ; Sahinalp, S Cenk ; Ji, Yuan ; Peifer, Martin ; Markowetz, Florian ; Mustonen, Ville ; Yuan, Ke ; Wang, Wenyi ; Morris, Quaid D ; Spellman, Paul T ; Wedge, David C ; Van Loo, Peter

Nature (London), 2020-02, Vol.578 (7793), p.122-128 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes
Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes
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Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes

Ma, Shiyang ; Dalgleish, James ; Lee, Justin ; Wang, Chen ; Liu, Linxi ; Gill, Richard ; Buxbaum, Joseph D ; Chung, Wendy K ; Aschard, Hugues ; Silverman, Edwin K ; Cho, Michael H ; He, Zihuai ; Ionita-Laza, Iuliana

Proceedings of the National Academy of Sciences - PNAS, 2021-11, Vol.118 (47), p.1 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
Patterns of somatic structural variation in human cancer genomes
Patterns of somatic structural variation in human cancer genomes
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Patterns of somatic structural variation in human cancer genomes

Li, Yilong ; Roberts, Nicola D ; Wala, Jeremiah A ; Shapira, Ofer ; Schumacher, Steven E ; Kumar, Kiran ; Khurana, Ekta ; Waszak, Sebastian ; Korbel, Jan O ; Haber, James E ; Imielinski, Marcin ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Campbell, Peter J

Nature (London), 2020-02, Vol.578 (7793), p.112-121 [Periódico revisado por pares]

England: Nature Publishing Group

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