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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Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2020
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Accès en ligne:https://doaj.org/article/028d671856044b26a0873e62b77eaea6
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