Research Topic

Non-Coding Variants: From Interpretation to Personalized Medicine

About this Research Topic

Human genetics was traditionally focused on the coding part of the genome. However, with the advent of modern genomics, the non-coding portion of the genome has progressively assumed a relevant role in gene regulation and chromatin structural organization. Many variants, identified by genome-wide association studies, are localized in non-coding regions and are thought to mediate their effect through regulatory mechanisms that don’t directly rely on protein-coding features. Variants localized in introns, untranslated regions (UTRs) or promoters can affect gene expression and change tissue-specific splicing. In addition, non-coding variants have been proven to affect the transcription of non-coding RNAs or modify chromatin structure, thus interfering with the regulatory code. Understanding the role of non-coding variants is crucial to gain insights on disease pathogenesis, and to plan tailored therapeutic interventions.

The goal of this Research Topic is to understand how non-coding variations can impact disease risk and phenotypes with the purpose to drive the development of new targeted therapeutic approaches. We welcome submissions in any of the following topics:

- New methods and computational approaches that will help the interpretation of non-coding variants and their effect on human disease predisposition and manifestation.
- Development of novel approaches that will help understand which of the many non-coding variants in a region associated with a disease functionally cause the higher risk.
Experimental validation of the effect of non-coding variants on protein function and on disease phenotype.
- Computational or experimental approaches aimed at assessing the effect of variants on non-coding RNA expression or chromatin organization.
- Development and evaluation of new therapeutic approaches targeting non-coding variants.
- Review or mini-review or practical guidance for interpreting non-coding variants in human diseases and drug response.

Determining the functional effect of non-coding variants will help to shed light into the mechanisms by which these variants contribute to disease risk and, eventually, will allow the development of approaches for prevention and targeted therapies.


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Human genetics was traditionally focused on the coding part of the genome. However, with the advent of modern genomics, the non-coding portion of the genome has progressively assumed a relevant role in gene regulation and chromatin structural organization. Many variants, identified by genome-wide association studies, are localized in non-coding regions and are thought to mediate their effect through regulatory mechanisms that don’t directly rely on protein-coding features. Variants localized in introns, untranslated regions (UTRs) or promoters can affect gene expression and change tissue-specific splicing. In addition, non-coding variants have been proven to affect the transcription of non-coding RNAs or modify chromatin structure, thus interfering with the regulatory code. Understanding the role of non-coding variants is crucial to gain insights on disease pathogenesis, and to plan tailored therapeutic interventions.

The goal of this Research Topic is to understand how non-coding variations can impact disease risk and phenotypes with the purpose to drive the development of new targeted therapeutic approaches. We welcome submissions in any of the following topics:

- New methods and computational approaches that will help the interpretation of non-coding variants and their effect on human disease predisposition and manifestation.
- Development of novel approaches that will help understand which of the many non-coding variants in a region associated with a disease functionally cause the higher risk.
Experimental validation of the effect of non-coding variants on protein function and on disease phenotype.
- Computational or experimental approaches aimed at assessing the effect of variants on non-coding RNA expression or chromatin organization.
- Development and evaluation of new therapeutic approaches targeting non-coding variants.
- Review or mini-review or practical guidance for interpreting non-coding variants in human diseases and drug response.

Determining the functional effect of non-coding variants will help to shed light into the mechanisms by which these variants contribute to disease risk and, eventually, will allow the development of approaches for prevention and targeted therapies.


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

19 December 2020 Abstract
18 April 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

19 December 2020 Abstract
18 April 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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