# How to find genomic regions relevant for gene regulation

**Authors:** Xuanzong Guo, Uwe Ohler, Ferah Yildirim

PMC · DOI: 10.1515/medgen-2021-2074 · Medizinische Genetik · 2021-08-14

## TL;DR

This paper reviews technologies used to identify and understand non-coding genomic regions that regulate gene activity.

## Contribution

The paper provides a comprehensive review of current methods for defining and validating non-coding regulatory regions.

## Key findings

- High-throughput methods have advanced the mapping of chromatin features and regulatory elements.
- Functional validation of non-coding regions is essential for understanding disease-related genetic variants.
- Recent technologies help define the role of non-coding DNA in gene regulation and disease mechanisms.

## Abstract

Genetic variants associated with human diseases are often located outside the protein coding regions of the genome. Identification and functional characterization of the regulatory elements in the non-coding genome is therefore of crucial importance for understanding the consequences of genetic variation and the mechanisms of disease. The past decade has seen rapid progress in high-throughput analysis and mapping of chromatin accessibility, looping, structure, and occupancy by transcription factors, as well as epigenetic modifications, all of which contribute to the proper execution of regulatory functions in the non-coding genome. Here, we review the current technologies for the definition and functional validation of non-coding regulatory regions in the genome.

## Full-text entities

- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11007629/full.md

## References

49 references — full list in the complete paper: https://tomesphere.com/paper/PMC11007629/full.md

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Source: https://tomesphere.com/paper/PMC11007629