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

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

Hi-C Technology Reveals Actionable Gene Fusions and Rearrangements in Diffuse Large B-Cell Lymphoma Unidentified by Conventional FISH

Hi-C技术揭示了弥漫性大B细胞淋巴瘤中传统FISH技术无法识别的可靶向基因融合和重排。

Liang, Sichen; Ament, Candice; Klausner, Melanie; Stinnett, Victoria; Morsberger, Laura; Ghabrial, Jen; Middlezong, William; Schmitt, Anthony D; Hastie, Alex R; Zou, Ying S

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)

光学基因组图谱揭示儿童多系统炎症综合征 (MIS-C) 中的罕见结构变异

Brownstein, Catherine A; van der Made, Caspar I; Cabral, Kristin; Rockowitz, Shira; Kang, Donghun; Schieck, Maximilian; Pang, Andy Wing Chun; Robinson, Jeffrey M; Hastie, Alex R; Chaubey, Alka; Hoischen, Alexander; Beggs, Alan H; Adebamowo, Clement A; Andalibi, Ali; Bacanu, Silviu-Alin; Bafna, Vineet; Bahl, Justin; Barseghyan, Hayk; Beggs, Alan; Burdette, Laurie; Butte, Manish; Constantoulakis, Pantelis; Crandall, Keith A; Dehkordi, Siavash R; Dennis, Megan; Fang, Gang; Fedrigo, Olivier; Finlay, Darren; Goldman, Michael A; Gurusamy, Umamaheswaran; Hayes, Vanessa; Hickey, Glenn; Hoischen, Alexander; Illig, Thomas; Ioannidis, Alexander; Jarvis, Erich; Koizumi, Naoru; Kolhe, Ravindra; Laamarti, Meriem; Labranche, Celia; Leibel, Sandra; Levy, Brynn; Loose, Matthew; Mello, Claudio; Nasir, Jamal; Phung, Thuy L; Rao, Chethan P Venkatasubba; Ross, Ted; Sahajpal, Nikhil S; Shamanna, Rashmi K; Soto, Daniela C; Trablesi, Amir; Wang, Zi-Xuan; Williams, Sion Llewelyn; Wright, Victoria; Zhao, Hua; Zody, Michael

Genetic Predisposition to Neurological Complications in Patients with COVID-19

新冠肺炎患者发生神经系统并发症的遗传易感性

Sahajpal, Nikhil Shri; Hastie, Alex R; Schieck, Maximilian; Mondal, Ashis K; Felde, Marc; van der Made, Caspar I; Chou, Janet S; Randolph, Adrienne G; Illig, Thomas; Zody, Michael C; Brownstein, Catherine A; Beggs, Alan H; Hoischen, Alexander; Chaubey, Alka; Kolhe, Ravindra

Analytic Validation of Optical Genome Mapping in Hematological Malignancies

血液系统恶性肿瘤光学基因组图谱分析验证

Pang, Andy W C; Kosco, Karena; Sahajpal, Nikhil S; Sridhar, Arthi; Hauenstein, Jen; Clifford, Benjamin; Estabrook, Joey; Chitsazan, Alex D; Sahoo, Trilochan; Iqbal, Anwar; Kolhe, Ravindra; Raca, Gordana; Hastie, Alex R; Chaubey, Alka

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement

光学基因组图谱和染色体微阵列的比较基准测试表明,两者在拷贝数变异识别和额外的结构变异精细化方面具有高度技术一致性。

Barseghyan, Hayk; Pang, Andy Wing Chun; Clifford, Benjamin; Serrano, Moises A; Chaubey, Alka; Hastie, Alex R

A high-quality bonobo genome refines the analysis of hominid evolution

高质量的倭黑猩猩基因组有助于完善对人科进化的分析。

Mao, Yafei; Catacchio, Claudia R; Hillier, LaDeana W; Porubsky, David; Li, Ruiyang; Sulovari, Arvis; Fernandes, Jason D; Montinaro, Francesco; Gordon, David S; Storer, Jessica M; Haukness, Marina; Fiddes, Ian T; Murali, Shwetha Canchi; Dishuck, Philip C; Hsieh, PingHsun; Harvey, William T; Audano, Peter A; Mercuri, Ludovica; Piccolo, Ilaria; Antonacci, Francesca; Munson, Katherine M; Lewis, Alexandra P; Baker, Carl; Underwood, Jason G; Hoekzema, Kendra; Huang, Tzu-Hsueh; Sorensen, Melanie; Walker, Jerilyn A; Hoffman, Jinna; Thibaud-Nissen, Françoise; Salama, Sofie R; Pang, Andy W C; Lee, Joyce; Hastie, Alex R; Paten, Benedict; Batzer, Mark A; Diekhans, Mark; Ventura, Mario; Eichler, Evan E

Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping

利用光学基因组图谱鉴定实体瘤中的体细胞结构变异

Goldrich, David Y; LaBarge, Brandon; Chartrand, Scott; Zhang, Lijun; Sadowski, Henry B; Zhang, Yang; Pham, Khoa; Way, Hannah; Lai, Chi-Yu Jill; Pang, Andy Wing Chun; Clifford, Benjamin; Hastie, Alex R; Oldakowski, Mark; Goldenberg, David; Broach, James R

Fully Phased Sequence of a Diploid Human Genome Determined de Novo from the DNA of a Single Individual

利用单个个体的DNA从头测定二倍体人类基因组的完整相位序列

Soifer, Llya; Fong, Nicole L; Yi, Nelda; Ireland, Andrea T; Lam, Irene; Sooknah, Matthew; Paw, Jonathan S; Peluso, Paul; Concepcion, Gregory T; Rank, David; Hastie, Alex R; Jojic, Vladimir; Ruby, J Graham; Botstein, David; Roy, Margaret A

Multi-platform discovery of haplotype-resolved structural variation in human genomes

利用多平台发现人类基因组中单倍型解析的结构变异

Chaisson, Mark J P; Sanders, Ashley D; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J; Rodriguez, Oscar L; Guo, Li; Collins, Ryan L; Fan, Xian; Wen, Jia; Handsaker, Robert E; Fairley, Susan; Kronenberg, Zev N; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M; Hastie, Alex R; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T; Lambert, Christine C; Church, Deanna M; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M; Navarro, Fabio C P; Nelson, Bradley J; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W C; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stütz, Adrian; Spierings, Diana C J; Ward, Alistair; Welch, AnneMarie E; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B; Kwok, Pui-Yan; Lansdorp, Peter M; Marth, Gabor T; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E; Talkowski, Michael E; Mills, Ryan E; Marschall, Tobias; Korbel, Jan O; Eichler, Evan E; Lee, Charles