Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Virtually all genome sequencing efforts in national biobanks, complex and Mendelian disease programs, and medical genetic initiatives are reliant upon short-read whole-genome sequencing (srWGS), which presents challenges for the detection of structural variants (SVs) relative to emerging long-read W...

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Foilsithe in:Am J Hum Genet
Main Authors: Zhao, Xuefang, Collins, Ryan L., Lee, Wan-Ping, Weber, Alexandra M., Jun, Yukyung, Zhu, Qihui, Weisburd, Ben, Huang, Yongqing, Audano, Peter A., Wang, Harold, Walker, Mark, Lowther, Chelsea, Fu, Jack, Gerstein, Mark B., Devine, Scott E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Chaisson, Mark J.P., Lee, Charles, Mills, Ryan E., Brand, Harrison, Talkowski, Michael E.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2021
Ábhair:
Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8206509/
https://ncbi.nlm.nih.gov/pubmed/33789087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.03.014
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