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

Characterization of subclonal variants in HG002 Genome in a Bottle reference material as a resource for benchmarking variant callers

对HG002 Genome in a Bottle参考材料中的亚克隆变异进行表征,作为变异检测器基准测试的资源

Daniels, Camille A; Abdulkadir, Adetola A; Cleveland, Megan H; McDaniel, Jennifer H; Jáspez, David; Rubio-Rodríguez, Luis Alberto; Muñoz-Barrera, Adrián; Lorenzo-Salazar, José Miguel; Flores, Carlos; Yoo, Byunggil; Ebrahim Sahraeian, Sayed Mohammad; Wang, Yina; Rossi, Massimiliano; Visvanath, Arun; Murray, Lisa; Chen, Wei-Ting; Catreux, Severine; Han, James; Mehio, Rami; Parnaby, Gavin; Carroll, Andrew; Chang, Pi-Chuan; Shafin, Kishwar; Cook, Daniel; Kolesnikov, Alexey; Brambrink, Lucas; Eeman Mootor, Mohammed Faizal; Patel, Yash; Yamaguchi, Takafumi N; Boutros, Paul C; Sienkiewicz, Karolina; Foox, Jonathan; Mason, Christopher E; Lajoie, Bryan R; Ruiz-Perez, Carlos A; Kruglyak, Semyon; Zook, Justin M; Olson, Nathan D

Analysis and benchmarking of small and large genomic variants across tandem repeats

对串联重复序列中大小基因组变异的分析和基准测试

English, Adam C; Dolzhenko, Egor; Ziaei Jam, Helyaneh; McKenzie, Sean K; Olson, Nathan D; De Coster, Wouter; Park, Jonghun; Gu, Bida; Wagner, Justin; Eberle, Michael A; Gymrek, Melissa; Chaisson, Mark J P; Zook, Justin M; Sedlazeck, Fritz J

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

Small variant benchmark from a complete assembly of X and Y chromosomes

来自 X 和 Y 染色体完整组装的小变异基准

Wagner, Justin; Olson, Nathan D; McDaniel, Jennifer; Harris, Lindsay; Pinto, Brendan J; Jáspez, David; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Lorenzo-Salazar, José M; Flores, Carlos; Sahraeian, Sayed Mohammad Ebrahim; Narzisi, Giuseppe; Byrska-Bishop, Marta; Evani, Uday S; Xiao, Chunlin; Lake, Juniper A; Fontana, Peter; Greenberg, Craig; Freed, Donald; Mootor, Mohammed Faizal Eeman; Boutros, Paul C; Murray, Lisa; Shafin, Kishwar; Carroll, Andrew; Sedlazeck, Fritz J; Wilson, Melissa; Zook, Justin M

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

Unraveling the hidden complexity of cancer through long-read sequencing

利用长读长测序揭示癌症的隐藏复杂性

Li, Qiuhui; Keskus, Ayse G; Wagner, Justin; Izydorczyk, Michal B; Timp, Winston; Sedlazeck, Fritz J; Klein, Alison P; Zook, Justin M; Kolmogorov, Mikhail; Schatz, Michael C

Interlaboratory assessment of candidate reference materials for lentiviral vector copy number and integration site measurements

对慢病毒载体拷贝数和整合位点测量的候选参考物质进行实验室间评估

He, Hua-Jun; He, Zhiyong; Lund, Steven P; Turner, Laure; Fan, Yongjun; Qiu, Yu; Corney, David C; Dropulic, Boro; Orentas, Rimas; Slessareva, Oxana; Welch, Priscilla; Dungca, Katie; Stelloo, Ellen; Dijksteel, Gabrielle; Feitsma, Harma; Ahmed-Seghir, Sana; Makarenko, Rostyslav; Altunlu, Engin; Steenmans, Daniëlle; Spanholtz, Jan; Raimo, Monica; Senderovich, Shai; Paugh, Barbara S; Li, Chieh-Yuan; Schroeder, Benjamin; Whale, Alexandra S; Yener, Dilek; Foy, Carole A; Nahas, Shareef; Tu, Feng; Sheldon, Michael; Ding, Yan; Kandell, Jennifer; Lakshmipathy, Uma; McDaniel, Jennifer H; Zook, Justin M; Miller, Sierra; Maragh, Samantha; Patange, Simona; Mohiuddin, Mahir; Tona, Alessandro; Cole, Kenneth D; Lin-Gibson, Sheng

GrapHiC: An Integrative Graph Based Approach for Imputing Missing Hi-C Reads

GrapHiC:一种基于图的集成方法,用于填补缺失的Hi-C读取序列

Murtaza, Ghulam; Wagner, Justin; Zook, Justin M; Singh, Ritambhara

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

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.

对多代家系进行全基因组测序,以扩展对遗传和表观遗传的研究。

Cechova Monika, Potapova Tamara A, Rechtsteiner Andreas, Hickey Glenn, Mari Rebecca Serra, Mastoras Mira, Menendez Julian, Poláková Nikol, Hebbar Prajna, Ryabov Fedor, Loucks Hailey, Groot Aljona, Pavlík Tomáš, Asri Mobin, Dong Shihua, Yan Stephanie M, Lucas Julian K, Solar Steven J, Borchers Matthew, Mattingly Mark, McKinney Sean, Krátká Marie, Mikhailova Catherine, Hanák Ondřej, Saha Sohinee Tiffany, Xu Emily, Antipov Dmitry, Koren Sergey, Eizenga Jordan M, McNulty Brandy, Gardner Joshua M V, Hillaker Todd, Violich Ivo, Markovic Christopher, Kruglyak Semyon, Levy Shawn, Wolf Trevor, Mitchell Matthew W, Scheinfeldt Laura, Cheng Haoyu, Alexandrov Ivan A, McCoy Rajiv C, Paten Benedict, Phillippy Adam M, Zook Justin M, Gerton Jennifer L, Fulton Robert S, Stitziel Nathan O, Wang Ting, Marschall Tobias, Greider Carol W, Miga Karen H