日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Toward Same-Day Genome Sequencing in the Critical Care Setting

迈向重症监护环境下的当日基因组测序

Wojcik, Monica H; Larkin, Katie; Cipicchio, Michelle; Doupnik, Austin; Zhao, Chen; Cech, Cynthia; Lopez, Douglas; Chandrasekar, Jagadeeswaran; Leadbetter, Joanne; Mannion, John; Berg, Kendall; Golkaram, Mahdi; Osentowski, McKenna; Freer, Megan; Lehmann, Taylor; Lee, Won-Mean; Ormbrek, Emily; Prindle, Marc J; Nabavi, Melud; Chaturvedi, Amal; Seberino, Chuck; Baker, Daniel N; Williams, Cara; Toledo, Diana; Malolepsza, Edyta; Fleharty, Mark; Oza, Andrea; Low, Sophie; Beggs, Alan H; Genetti, Casie A; Strickland, Gwendolyn; Anderson, Katherine N; Chung, Wendy K; Rehm, Heidi L; Hofherr, Sean; Kokoris, Mark; Lennon, Niall

A complete diploid human genome benchmark for personalized genomics

用于个性化基因组学的完整二倍体人类基因组基准

Hansen, Nancy F; Dwarshuis, Nathan; Ji, Hyun Joo; Rhie, Arang; Loucks, Hailey; Logsdon, Glennis A; Vollger, Mitchell R; Storer, Jessica M; Kim, Juhyun; Adam, Eleni; Altemose, Nicolas; Antipov, Dmitry; Asri, Mobin; Barreira, Sofia; Bohaczuk, Stephanie C; Bzikadze, Andrey V; Carioscia, Sara A; Carroll, Andrew; Chao, Kuan-Hao; Chu, Yanan; Das, Arun; Ebert, Peter; English, Adam; Fleharty, Mark; Fleming, Laura E; Formenti, Giulio; Guarracino, Andrea; Hartley, Gabrielle A; Jenike, Katharine; Kalleberg, Jenna; Kang, Yu; King, Robert; Lipovac, Josipa; Mastoras, Mira; Mitchell, Matthew W; Negi, Shloka; Olson, Nathan D; Oshima, Keisuke K; Paulin, Luis F; Pickett, Brandon D; Porubsky, David; Ranchalis, Jane; Ranjan, Desh; Rautiainen, Mikko; Riethman, Harold; Schnabel, Robert D; Sedlazeck, Fritz J; Shafin, Kishwar; Sikic, Mile; Solar, Steven J; Sweeten, Alexander P; Timp, Winston; Wagner, Justin; Yoo, DongAhn; Zhou, Ying; Garrison, Erik; Eichler, Evan E; Schatz, Michael C; Stergachis, Andrew B; O'Neill, Rachel J; Miga, Karen H; Salzberg, Steven L; Koren, Sergey; Zook, Justin M; Phillippy, Adam M

Pf7: an open dataset of Plasmodium falciparum genome variation in 20,000 worldwide samples

Pf7:一个包含来自全球20000个样本的恶性疟原虫基因组变异的开放数据集

Abdel Hamid, Muzamil Mahdi; Abdelraheem, Mohamed Hassan; Acheampong, Desmond Omane; Ahouidi, Ambroise; Ali, Mozam; Almagro-Garcia, Jacob; Amambua-Ngwa, Alfred; Amaratunga, Chanaki; Amenga-Etego, Lucas; Andagalu, Ben; Anderson, Tim; Andrianaranjaka, Voahangy; Aniebo, Ifeyinwa; Aninagyei, Enoch; Ansah, Felix; Ansah, Patrick O; Apinjoh, Tobias; Arnaldo, Paulo; Ashley, Elizabeth; Auburn, Sarah; Awandare, Gordon A; Ba, Hampate; Baraka, Vito; Barry, Alyssa; Bejon, Philip; Bertin, Gwladys I; Boni, Maciej F; Borrmann, Steffen; Bousema, Teun; Bouyou-Akotet, Marielle; Branch, Oralee; Bull, Peter C; Cheah, Huch; Chindavongsa, Keobouphaphone; Chookajorn, Thanat; Chotivanich, Kesinee; Claessens, Antoine; Conway, David J; Corredor, Vladimir; Courtier, Erin; Craig, Alister; D'Alessandro, Umberto; Dama, Souleymane; Day, Nicholas; Denis, Brigitte; Dhorda, Mehul; Diakite, Mahamadou; Djimde, Abdoulaye; Dolecek, Christiane; Dondorp, Arjen; Doumbia, Seydou; Drakeley, Chris; Drury, Eleanor; Duffy, Patrick; Echeverry, Diego F; Egwang, Thomas G; Enosse, Sonia Maria Mauricio; Erko, Berhanu; Fairhurst, Rick M; Faiz, Abdul; Fanello, Caterina A; Fleharty, Mark; Forbes, Matthew; Fukuda, Mark; Gamboa, Dionicia; Ghansah, Anita; Golassa, Lemu; Goncalves, Sonia; Harrison, G L Abby; Healy, Sara Anne; Hendry, Jason A; Hernandez-Koutoucheva, Anastasia; Hien, Tran Tinh; Hill, Catherine A; Hombhanje, Francis; Hott, Amanda; Htut, Ye; Hussein, Mazza; Imwong, Mallika; Ishengoma, Deus; Jackson, Scott A; Jacob, Chris G; Jeans, Julia; Johnson, Kimberly J; Kamaliddin, Claire; Kamau, Edwin; Keatley, Jon; Kochakarn, Theerarat; Konate, Drissa S; Konaté, Abibatou; Kone, Aminatou; Kwiatkowski, Dominic P; Kyaw, Myat P; Kyle, Dennis; Lawniczak, Mara; Lee, Samuel K; Lemnge, Martha; Lim, Pharath; Lon, Chanthap; Loua, Kovana M; Mandara, Celine I; Marfurt, Jutta; Marsh, Kevin; Maude, Richard James; Mayxay, Mayfong; Maïga-Ascofaré, Oumou; Miotto, Olivo; Mita, Toshihiro; Mobegi, Victor; Mohamed, Abdelrahim Osman; Mokuolu, Olugbenga A; Montgomery, Jaqui; Morang'a, Collins Misita; Mueller, Ivo; Murie, Kathryn; Newton, Paul N; Ngo Duc, Thang; Nguyen, Thuy; Nguyen, Thuy-Nhien; Nguyen Thi Kim, Tuyen; Nguyen Van, Hong; Noedl, Harald; Nosten, Francois; Noviyanti, Rintis; Ntui, Vincent Ntui-Njock; Nzila, Alexis; Ochola-Oyier, Lynette Isabella; Ocholla, Harold; Oduro, Abraham; Omedo, Irene; Onyamboko, Marie A; Ouedraogo, Jean-Bosco; Oyebola, Kolapo; Oyibo, Wellington Aghoghovwia; Pearson, Richard; Peshu, Norbert; Phyo, Aung P; Plowe, Christopher V; Price, Ric N; Pukrittayakamee, Sasithon; Quang, Huynh Hong; Randrianarivelojosia, Milijaona; Rayner, Julian C; Ringwald, Pascal; Rosanas-Urgell, Anna; Rovira-Vallbona, Eduard; Ruano-Rubio, Valentin; Ruiz, Lastenia; Saunders, David; Shayo, Alex; Siba, Peter; Simpson, Victoria J; Sissoko, Mahamadou S; Smith, Christen; Su, Xin-Zhuan; Sutherland, Colin; Takala-Harrison, Shannon; Talman, Arthur; Tavul, Livingstone; Thanh, Ngo Viet; Thathy, Vandana; Thu, Aung Myint; Toure, Mahamoudou; Tshefu, Antoinette; Verra, Federica; Vinetz, Joseph; Wellems, Thomas E; Wendler, Jason; White, Nicholas J; Whitton, Georgia; Yavo, William; van der Pluijm, Rob W

Donor Clonal Hematopoiesis and Recipient Outcomes After Transplantation

供体克隆造血与移植后受体结局

Gibson, Christopher J; Kim, Haesook T; Zhao, Lin; Murdock, H Moses; Hambley, Bryan; Ogata, Alana; Madero-Marroquin, Rafael; Wang, Shiyu; Green, Lisa; Fleharty, Mark; Dougan, Tyler; Cheng, Chi-An; Blumenstiel, Brendan; Cibulskis, Carrie; Tsuji, Junko; Duran, Madeleine; Gocke, Christopher D; Antin, Joseph H; Nikiforow, Sarah; DeZern, Amy E; Chen, Yi-Bin; Ho, Vincent T; Jones, Richard J; Lennon, Niall J; Walt, David R; Ritz, Jerome; Soiffer, Robert J; Gondek, Lukasz P; Lindsley, R Coleman

Liquid biopsy detection of genomic alterations in pediatric brain tumors from cell-free DNA in peripheral blood, CSF, and urine

利用外周血、脑脊液和尿液中的游离DNA进行液体活检,检测儿童脑肿瘤的基因组改变。

Pagès, Mélanie; Rotem, Denisse; Gydush, Gregory; Reed, Sarah; Rhoades, Justin; Ha, Gavin; Lo, Christopher; Fleharty, Mark; Duran, Madeleine; Jones, Robert; Becker, Sarah; Haller, Michaela; Sinai, Claire E; Goumnerova, Liliana; Golub, Todd R; Love, J Christopher; Ligon, Keith L; Wright, Karen D; Adalsteinsson, Viktor A; Beroukhim, Rameen; Bandopadhayay, Pratiti

Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer

对早期乳腺癌患者治疗后微小残留病灶的敏感检测

Parsons, Heather A; Rhoades, Justin; Reed, Sarah C; Gydush, Gregory; Ram, Priyanka; Exman, Pedro; Xiong, Kan; Lo, Christopher C; Li, Tianyu; Fleharty, Mark; Kirkner, Gregory J; Rotem, Denisse; Cohen, Ofir; Yu, Fangyan; Fitarelli-Kiehl, Mariana; Leong, Ka Wai; Hughes, Melissa E; Rosenberg, Shoshana M; Collins, Laura C; Miller, Kathy D; Blumenstiel, Brendan; Trippa, Lorenzo; Cibulskis, Carrie; Neuberg, Donna S; DeFelice, Matthew; Freeman, Samuel S; Lennon, Niall J; Wagle, Nikhil; Ha, Gavin; Stover, Daniel G; Choudhury, Atish D; Getz, Gad; Winer, Eric P; Meyerson, Matthew; Lin, Nancy U; Krop, Ian; Love, J Christopher; Makrigiorgos, G Mike; Partridge, Ann H; Mayer, Erica L; Golub, Todd R; Adalsteinsson, Viktor A

Best practices for benchmarking germline small-variant calls in human genomes

人类基因组中种系小变异位点检测基准测试的最佳实践

Krusche, Peter; Trigg, Len; Boutros, Paul C; Mason, Christopher E; De La Vega, Francisco M; Moore, Benjamin L; Gonzalez-Porta, Mar; Eberle, Michael A; Tezak, Zivana; Lababidi, Samir; Truty, Rebecca; Asimenos, George; Funke, Birgit; Fleharty, Mark; Chapman, Brad A; Salit, Marc; Zook, Justin M

A synthetic-diploid benchmark for accurate variant-calling evaluation

用于准确评估变异调用的合成二倍体基准

Heng Li, Jonathan M Bloom, Yossi Farjoun, Mark Fleharty, Laura Gauthier, Benjamin Neale, Daniel MacArthur

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

利用大规模并行测序平台上的非冗余双重索引技术对样本索引互换进行表征和修复

Costello, Maura; Fleharty, Mark; Abreu, Justin; Farjoun, Yossi; Ferriera, Steven; Holmes, Laurie; Granger, Brian; Green, Lisa; Howd, Tom; Mason, Tamara; Vicente, Gina; Dasilva, Michael; Brodeur, Wendy; DeSmet, Timothy; Dodge, Sheila; Lennon, Niall J; Gabriel, Stacey

Landscape of X chromosome inactivation across human tissues

人类组织中 X 染色体失活情况

Taru Tukiainen, Alexandra-Chloé Villani, Angela Yen, Manuel A Rivas, Jamie L Marshall, Rahul Satija, Matt Aguirre, Laura Gauthier, Mark Fleharty, Andrew Kirby, Beryl B Cummings, Stephane E Castel, Konrad J Karczewski, François Aguet, Andrea Byrnes; GTEx Consortium; Laboratory, Data Analysis &Coordin