Analytic Validation of Optical Genome Mapping in Hematological Malignancies

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

Publikováno v: Biomedicines, Vol 11, Iss 12, p 3263 (2023)

Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in situ hybridization (FISH), which have been employed globally for the past three dec

Externí odkaz: https://doaj.org/article/c634aea7b1764212a52720e1928fe2f0

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

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

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Externí odkaz: https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1

Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions

Autor: Hayk Barseghyan, Andy W. C. Pang, Yang Zhang, Nikhil S. Sahajpal, Yannick Delpu, Chi-Yu Jill Lai, Joyce Lee, Chloe Tessereau, Mark Oldakowski, Ravindra B. Kolhe, Henry Houlden, Peter L. Nagy, Aaron D. Bossler, Alka Chaubey, Alex R. Hastie

Publikováno v: Neuromethods ISBN: 9781071623565

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33317aa77c097875b75795a47455392d
https://doi.org/10.1007/978-1-0716-2357-2_9