RobusTAD: reference panel based annotation of nested topologically associating domains

Abstract Topologically associating domains (TADs) are fundamental units of 3D genomes and play essential roles in gene regulation. Hi-C data suggests a hierarchical organization of TADs. Accurately annotating nested TADs from Hi-C data remains challenging, both in terms of the precise identification...

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Bibliographic Details
Main Authors: Yanlin Zhang, Rola Dali, Mathieu Blanchette
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Biology
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Online Access:https://doi.org/10.1186/s13059-025-03568-9
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Summary:Abstract Topologically associating domains (TADs) are fundamental units of 3D genomes and play essential roles in gene regulation. Hi-C data suggests a hierarchical organization of TADs. Accurately annotating nested TADs from Hi-C data remains challenging, both in terms of the precise identification of boundaries and the correct inference of hierarchies. While domain boundary is relatively well conserved across cells, few approaches have taken advantage of this fact. Here, we present RobusTAD to annotate TAD hierarchies. It incorporates additional Hi-C data to refine boundaries annotated from the study sample. RobusTAD outperforms existing tools at boundary and domain annotation across several benchmarking tasks.
ISSN:1474-760X