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1
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

Kingsmore, Stephen F. ; Cakici, Julie A. ; Clark, Michelle M. ; Gaughran, Mary ; Feddock, Michele ; Batalov, Sergey ; Bainbridge, Matthew N. ; Carroll, Jeanne ; Caylor, Sara A. ; Clarke, Christina ; Ding, Yan ; Ellsworth, Katarzyna ; Farnaes, Lauge ; Hildreth, Amber ; Hobbs, Charlotte ; James, Kiely ; Kint, Cyrielle I. ; Lenberg, Jerica ; Nahas, Shareef ; Prince, Lance ; Reyes, Iris ; Salz, Lisa ; Sanford, Erica ; Schols, Peter ; Sweeney, Nathaly ; Tokita, Mari ; Veeraraghavan, Narayanan ; Watkins, Kelly ; Wigby, Kristen ; Wong, Terence ; Chowdhury, Shimul ; Wright, Meredith S. ; Dimmock, David ; Bezares, Zaira ; Bloss, Cinnamon ; Braun, Joshua J.A. ; Diaz, Carlos ; Mashburn, Dana ; Tamang, Dorjee ; Orendain, Daniken ; Friedman, Jenni ; Gleeson, Joe ; Barea, Jaime ; Chiang, George ; Cohenmeyer, Casey ; Coufal, Nicole G. ; Evans, Marva ; Honold, Jose ; Hovey, Raymond L. ; Kimball, Amy ; Lane, Brian ; Le, Crystal ; Le, Jennie ; Leibel, Sandra ; Moyer, Laurel ; Mulrooney, Patrick ; Oh, Daeheon ; Ordonez, Paulina ; Oriol, Albert ; Ortiz-Arechiga, Maria ; Puckett, Laura ; Speziale, Mark ; Suttner, Denise ; Van Der Kraan, Lucitia ; Knight, Gail ; Sauer, Charles ; Song, Richard ; White, Sarah ; Wise, Audra ; Yamada, Catherine

American journal of human genetics, 2019-10, Vol.105 (4), p.719-733 [Periódico revisado por pares]

United States: Elsevier Inc

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2
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Schwarze, Katharina ; Buchanan, James ; Fermont, Jilles M ; Dreau, Helene ; Tilley, Mark W ; Taylor, John M ; Antoniou, Pavlos ; Knight, Samantha J L ; Camps, Carme ; Pentony, Melissa M ; Kvikstad, Erika M ; Harris, Steve ; Popitsch, Niko ; Pagnamenta, Alistair T ; Schuh, Anna ; Taylor, Jenny C ; Wordsworth, Sarah

Genetics in medicine, 2020-01, Vol.22 (1), p.85-94 [Periódico revisado por pares]

United States: Elsevier Limited

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3
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

Dimmock, David P ; Clark, Michelle M ; Gaughran, Mary ; Cakici, Julie A ; Caylor, Sara A ; Clarke, Christina ; Feddock, Michele ; Chowdhury, Shimul ; Salz, Lisa ; Cheung, Cynthia ; Bird, Lynne M ; Hobbs, Charlotte ; Wigby, Kristen ; Farnaes, Lauge ; Bloss, Cinnamon S ; Kingsmore, Stephen F

American journal of human genetics, 2020-11, Vol.107 (5), p.942-952 [Periódico revisado por pares]

United States: Elsevier

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4
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

Byrska-Bishop, Marta ; Evani, Uday S ; Zhao, Xuefang ; Basile, Anna O ; Abel, Haley J ; Regier, Allison A ; Corvelo, André ; Clarke, Wayne E ; Musunuri, Rajeeva ; Nagulapalli, Kshithija ; Fairley, Susan ; Runnels, Alexi ; Winterkorn, Lara ; Lowy, Ernesto ; Paul Flicek ; Germer, Soren ; Brand, Harrison ; Hall, Ira M ; Talkowski, Michael E ; Narzisi, Giuseppe ; Zody, Michael C

Cell, 2022-09, Vol.185 (18), p.3426-3440.e19 [Periódico revisado por pares]

United States: Cell Press

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5
Occurrence of carbapenemase-producing Enterobacteriaceae in a Portuguese river: blaNDM, blaKPC and blaGES among the detected genes
Occurrence of carbapenemase-producing Enterobacteriaceae in a Portuguese river: blaNDM, blaKPC and blaGES among the detected genes
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Occurrence of carbapenemase-producing Enterobacteriaceae in a Portuguese river: blaNDM, blaKPC and blaGES among the detected genes

Teixeira, Pedro ; Tacão, Marta ; Pureza, Leide ; Gonçalves, Joana ; Silva, Artur ; Cruz-Schneider, Maria Paula ; Henriques, Isabel

Environmental pollution (1987), 2020-05, Vol.260, p.113913, Article 113913 [Periódico revisado por pares]

Elsevier Ltd

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6
Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes
Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes
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Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes

Dentro, Stefan C. ; Leshchiner, Ignaty ; Haase, Kerstin ; Wintersinger, Jeff ; Deshwar, Amit G. ; Yu, Kaixian ; Rubanova, Yulia ; Macintyre, Geoff ; Demeulemeester, Jonas ; Vázquez-García, Ignacio ; Kleinheinz, Kortine ; Livitz, Dimitri G. ; Malikic, Salem ; Donmez, Nilgun ; Sengupta, Subhajit ; Anur, Pavana ; Jolly, Clemency ; Rosebrock, Daniel ; Schumacher, Steven E. ; Fittall, Matthew ; Drews, Ruben M. ; Yao, Xiaotong ; Lee, Juhee ; Schlesner, Matthias ; Zhu, Hongtu ; Adams, David J. ; McGranahan, Nicholas ; Swanton, Charles ; Getz, Gad ; Boutros, Paul C. ; Imielinski, Marcin ; Beroukhim, Rameen ; Sahinalp, S. Cenk ; Ji, Yuan ; Peifer, Martin ; Martincorena, Inigo ; Markowetz, Florian ; Mustonen, Ville ; Yuan, Ke ; Gerstung, Moritz ; Spellman, Paul T. ; Wang, Wenyi ; Wedge, David C. ; Dentro, Stefan C. ; Leshchiner, Ignaty ; Gerstung, Moritz ; Jolly, Clemency ; Haase, Kerstin ; Tarabichi, Maxime ; Wintersinger, Jeff ; Deshwar, Amit G. ; Yu, Kaixian ; Rubanova, Yulia ; Macintyre, Geoff ; Demeulemeester, Jonas ; Anur, Pavana ; Beroukhim, Rameen ; Boutros, Paul C. ; Bowtell, David D. ; Cao, Shaolong ; Cmero, Marek ; Cun, Yupeng ; Dawson, Kevin J. ; Donmez, Nilgun ; Drews, Ruben M. ; Eils, Roland ; Fan, Yu ; Fittall, Matthew ; Getz, Gad ; Ha, Gavin ; Imielinski, Marcin ; Ji, Yuan ; Kleinheinz, Kortine ; Lee, Juhee ; Lee-Six, Henry ; Livitz, Dimitri G. ; Malikic, Salem ; Markowetz, Florian ; Martincorena, Inigo ; Mustonen, Ville ; Oesper, Layla ; Peifer, Martin ; Peto, Myron ; Raphael, Benjamin J. ; Rosebrock, Daniel ; Salcedo, Adriana ; Schumacher, Steven E. ; Sengupta, Subhajit ; Shi, Ruian ; Spiro, Oliver ; Vázquez-García, Ignacio ; Vembu, Shankar ; Wheeler, David A. ; Yao, Xiaotong ; Yuan, Ke ; Wang, Wenyi ; Morris, Quaid D. ; Spellman, Paul T. ; Wedge, David C. ; Van Loo, Peter

Cell, 2021-04, Vol.184 (8), p.2239-2254.e39 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Opportunities and challenges in long-read sequencing data analysis
Opportunities and challenges in long-read sequencing data analysis
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Opportunities and challenges in long-read sequencing data analysis

Amarasinghe, Shanika L ; Su, Shian ; Dong, Xueyi ; Zappia, Luke ; Ritchie, Matthew E ; Gouil, Quentin

Genome Biology, 2020-02, Vol.21 (1), p.30-30, Article 30 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Transmission, infectivity, and neutralization of a spike L452R SARS-CoV-2 variant
Transmission, infectivity, and neutralization of a spike L452R SARS-CoV-2 variant
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Transmission, infectivity, and neutralization of a spike L452R SARS-CoV-2 variant

Deng, Xianding ; Garcia-Knight, Miguel A. ; Khalid, Mir M. ; Servellita, Venice ; Wang, Candace ; Morris, Mary Kate ; Sotomayor-González, Alicia ; Glasner, Dustin R. ; Reyes, Kevin R. ; Gliwa, Amelia S. ; Reddy, Nikitha P. ; Sanchez San Martin, Claudia ; Federman, Scot ; Cheng, Jing ; Balcerek, Joanna ; Taylor, Jordan ; Streithorst, Jessica A. ; Miller, Steve ; Sreekumar, Bharath ; Chen, Pei-Yi ; Schulze-Gahmen, Ursula ; Taha, Taha Y. ; Hayashi, Jennifer M. ; Simoneau, Camille R. ; Kumar, G. Renuka ; McMahon, Sarah ; Lidsky, Peter V. ; Xiao, Yinghong ; Hemarajata, Peera ; Green, Nicole M. ; Espinosa, Alex ; Kath, Chantha ; Haw, Monica ; Bell, John ; Hacker, Jill K. ; Hanson, Carl ; Wadford, Debra A. ; Anaya, Carlos ; Ferguson, Donna ; Frankino, Phillip A. ; Shivram, Haridha ; Lareau, Liana F. ; Wyman, Stacia K. ; Ott, Melanie ; Andino, Raul ; Chiu, Charles Y.

Cell, 2021-06, Vol.184 (13), p.3426-3437.e8 [Periódico revisado por pares]

United States: Elsevier Inc

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9
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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10
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
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Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Mackley, Michael P. ; Fletcher, Benjamin ; Parker, Michael ; Watkins, Hugh ; Ormondroyd, Elizabeth

Genetics in medicine, 2017-03, Vol.19 (3), p.283-293 [Periódico revisado por pares]

United States: Elsevier Inc

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