未登录 OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities Omkar 使用光学图谱自动进行基因组核型分析，以识别先天性异常。 Raeisi Dehkordi, Siavash; Jia, Zhaoyang; Estabrook, Joey; Hauenstein, Jen; Miller, Neil; Guleray-Lafci, Naz; Neesen, Jurgen; Hastie, Alex; Chaubey, Alka; Wing Chun Pang, Andy; Dremsek, Paul; Bafna, Vineet 分享 收藏
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Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly Mostovoy, Yulia; Boone, Philip M.; Huang, Yongqing; V. Garimella, Kiran; Tan, Kar-Tong; Russell, Bianca E.; Salani, Monica; Esch, Celine E. F. de; Lemanski, John; Curall, Benjamin; Hauenstein, Jen; Lucente, Diane; Bowers, Tera; Desmet, Tim; Gabriel, Stacey; Morton, Cynthia C.; Meyerson, Matthew; Hastie, Alex R.; Gusella, James; Quintero-Rivera, Fabiola; Brand, Harrison; Talkowski, Michael E. 分享 收藏
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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models (vol 109, pg 1789, 2022) Tai, Derek J. C.; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; de Esch, Celine E.; Collins, Ryan L.; Currall, Benjamin B.; O'Keefe, Kathryn; Burt, Nicholas D.; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J.; Perlis, Roy H.; Talkowski, Michael E.; Gusella, James F. 分享 收藏
Analytic Validation of Optical Genome Mapping in Hematological Malignancies 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 分享 收藏
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Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies Talsania, Keyur; Shen, Tsai-wei; Chen, Xiongfong; Jaeger, Erich; Li, Zhipan; Chen, Zhong; Chen, Wanqiu; Tran, Bao; Kusko, Rebecca; Wang, Limin; Pang, Andy Wing Chun; Yang, Zhaowei; Choudhari, Sulbha; Colgan, Michael; Fang, Li Tai; Carroll, Andrew; Shetty, Jyoti; Kriga, Yuliya; German, Oksana; Smirnova, Tatyana; Liu, Tiantain; Li, Jing; Kellman, Ben; Hong, Karl; Hastie, Alex R. R.; Natarajan, Aparna; Moshrefi, Ali; Granat, Anastasiya; Truong, Tiffany; Bombardi, Robin; Mankinen, Veronnica; Meerzaman, Daoud; Mason, Christopher E. E.; Collins, Jack; Stahlberg, Eric; Xiao, Chunlin; Wang, Charles; Xiao, Wenming; Zhao, Yongmei 分享 收藏
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms Sahajpal, Nikhil S.; Mondal, Ashis K.; Tvrdik, Tatiana; Hauenstein, Jennifer; Shi, Huidong; Deeb, Kristin K.; Saxe, Debra; Hastie, Alex R.; Chaubey, Alka; Savage, Natasha M.; Kota, Vamsi; Kolhe, Ravindra 分享 收藏
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models Tai, Derek J. C.; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; De Esch, Celine E.; Collins, Ryan L.; Currall, Benjamin B.; O'Keefe, Kathryn; Burt, Nicholas D.; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J.; Perlis, Roy H.; Talkowski, Michael E.; Gusella, James F. 分享 收藏
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing Nicolle, Romain; Siquier-Pernet, Karine; Rio, Marlene; Guimier, Anne; Ollivier, Emmanuelle; Nitschke, Patrick; Bole-Feysot, Christine; Romana, Serge; Hastie, Alex; Cantagrel, Vincent; Malan, Valerie 分享 收藏
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Optical genome mapping for high throughput analysis of repeat expansion disorders Muggli, Martin; Ramandi, Bahar; Miller, Neil; Zhang, Dong; Lam, Ernest; Wang, Jian; Wang, Tom; Lee, Joyce; Pang, Andy; Sadowski, Henry; Hastie, Alex; Oldakowski, Mark 分享 收藏
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Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer APC基因座的宪法色病是导致结肠癌遗传易感性的原因 Scharf, Florentine; Silva, Rafaela Magalhaes Leal; Morak, Monika; Hastie, Alex; Pickl, Julia M. A.; Sendelbach, Kai; Gebhard, Christian; Locher, Melanie; Laner, Andreas; Steinke-Lange, Verena; Koehler, Udo; Holinski-Feder, Elke; Wolf, Dieter A. 分享 收藏
Genome-wide mapping of human DNA replication by optical replication mapping supports a stochastic model of eukaryotic replication Wang, Weitao; Klein, Kyle N.; Proesmans, Karel; Yang, Hongbo; Marchal, Claire; Zhu, Xiaopeng; Borrman, Tyler; Hastie, Alex; Weng, Zhiping; Bechhoefer, John; Chen, Chun-Long; Gilbert, David M.; Rhind, Nicholas 分享 收藏
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