Abstract

Over the past decade, methods for predicting three-dimensional (3-D) chromosome and genome structures have proliferated. This has been primarily due to the development of high-throughput, next-generation chromosome conformation capture (3C) technologies, which have provided next-generation sequencing data about chromosome conformations in order to map the 3-D genome structure. The introduction of the Hi-C technique—a variant of the 3C method—has allowed researchers to extract the interaction frequency (IF) for all loci of a genome at high-throughput and at a genome-wide scale. In this review we describe, categorize, and compare the various methods developed to map chromosome and genome structures from 3C data—particularly Hi-C data. We summarize the improvements introduced by these methods, describe the approach used for method evaluation, and discuss how these advancements shape the future of genome structure construction.

Highlights

  • After decades of research about the organization of the nucleus of the eukaryotic cell, there exists substantial evidence that the genome architecture plays a key role in nuclear functions. [1–8]

  • The tool developed by Zou et al, called HSA, takes advantage of the uniqueness of the contact map obtained from different restriction enzymes in Hi-C experiments; it creates a generalized linear model through an iterative algorithm that combines simulated annealing and Hamiltonian dynamics

  • Validation and Evaluation According to the literature on chromosome and genome 3-D construction methods, algorithms are most often validated by a simulated dataset to assess their reconstruction ability, the consistency with the Hi-C data, known genome and chromosome structural features [49], or Fluorescence in situ hybridization (FISH) data

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Summary

Introduction

After decades of research about the organization of the nucleus of the eukaryotic cell, there exists substantial evidence that the genome architecture plays a key role in nuclear functions. [1–8]. Distance-Based Methods Over the years, a number of approaches have been proposed for chromosome 3-D structure inference from Hi-C contact data. The tool developed by Zou et al, called HSA, takes advantage of the uniqueness of the contact map obtained from different restriction enzymes in Hi-C experiments; it creates a generalized linear model through an iterative algorithm that combines simulated annealing and Hamiltonian dynamics.

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