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EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps

Authors: Wang, Xiaotao; Luan, Yu; Yue, Feng;

EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps

Abstract

Hi-C technique has been shown to be a promising method to detect structural variations (SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV detection have been severely lacking. Current methods can only identify inter-chromosomal translocations and long-range intra-chromosomal SVs (>1Mb) at less-than-optimal resolution. Therefore, we develop EagleC, a framework that combines deep-learning and ensemble-learning strategies to predict a full-range of SVs at high-resolution. Importantly, we show that EagleC can uniquely capture a set of fusion genes that are missed by WGS or nanopore. Furthermore, EagleC also effectively captures SVs in other chromatin interaction platforms, such as HiChIP, ChIA-PET, and capture Hi-C. We apply EagleC in over 100 cancer cell lines and primary tumors, and identify a valuable set of high-quality SVs. Finally, we demonstrate that EagleC can be applied to single-cell Hi-C and used to study the SV heterogeneity in primary tumors.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
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Cancer Research