SV-HotSpot: detection and visualization of hotspots targeted by structural variants associated with gene expression

Abstract Whole genome sequencing (WGS) has enabled the discovery of genomic structural variants (SVs), including those targeting intergenic and intronic non-coding regions that eluded previous exome focused strategies. However, the field currently lacks an automated tool that analyzes SV candidates...

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Autores principales: Abdallah M. Eteleeb, David A. Quigley, Shuang G. Zhao, Duy Pham, Rendong Yang, Scott M. Dehm, Jingqin Luo, Felix Y. Feng, Ha X. Dang, Christopher A. Maher
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/028d671856044b26a0873e62b77eaea6
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