Back

TRUHiC: A TRansformer-embedded U-2 Net to enhance Hi-C data for 3D chromatin structure characterization

Li, C.; Mowlaei, M. E.; Human Genome Structural Variation Consortium, ; HGSVC Functional Analysis Working Group, ; Carnevale, V.; Kumar, S.; Shi, X.

2025-04-03 bioinformatics
10.1101/2025.03.29.646133 bioRxiv
Show abstract

High-throughput chromosome conformation capture sequencing (Hi-C) is a key technology for studying the three-dimensional (3D) structure of genomes and chromatin folding. Hi-C data reveals underlying patterns of genome organization, such as topologically associating domains (TADs) and chromatin loops, with critical roles in transcriptional regulation and disease etiology and progression. However, the sparsity of existing Hi-C data often hinders robust and reliable inference of 3D structures. Hence, we propose TRUHiC, a new computational method that leverages recent state-of-the-art deep generative modeling to augment low-resolution Hi-C data for the characterization of 3D chromatin structures. By applying TRUHiC to real low-resolution Hi-C data from the GM12329 cell line and across other publicly available Hi-C data for human and mice, we demonstrate that the augmented data significantly improve the characterization of TADs and loops across diverse cell lines and species. We further present a pre-trained TRUHiC on human lymphoblastoid cell lines that can be adaptable and transferable to improve chromatin characterization of various cell lines, tissues, and species.

Matching journals

The top 5 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.