Exploration of Tools for the Interpretation of Human Non-Coding Variants

The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of the most challenging issues in WGS analysis regards the interpretat...

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Autores principales: Tabarini, Nicole, Biagi, Elena, Uva, Paolo, Iovino, Emanuela, Pippucci, Tommaso, Seri, Marco, Cavalli, Andrea, Ceccherini, Isabella, Rusmini, Marta, Viti, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654743/
https://www.ncbi.nlm.nih.gov/pubmed/36361767
http://dx.doi.org/10.3390/ijms232112977
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author Tabarini, Nicole
Biagi, Elena
Uva, Paolo
Iovino, Emanuela
Pippucci, Tommaso
Seri, Marco
Cavalli, Andrea
Ceccherini, Isabella
Rusmini, Marta
Viti, Federica
author_facet Tabarini, Nicole
Biagi, Elena
Uva, Paolo
Iovino, Emanuela
Pippucci, Tommaso
Seri, Marco
Cavalli, Andrea
Ceccherini, Isabella
Rusmini, Marta
Viti, Federica
author_sort Tabarini, Nicole
collection PubMed
description The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of the most challenging issues in WGS analysis regards the interpretation of annotated variants. This review focuses on tools suitable for the functional annotation of variants falling into non-coding regions. It couples the description of non-coding genomic areas with the results and performance of existing tools for a functional interpretation of the effect of variants in these regions. Tools were tested in a controlled genomic scenario, representing the ground-truth and allowing us to determine software performance.
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spelling pubmed-96547432022-11-15 Exploration of Tools for the Interpretation of Human Non-Coding Variants Tabarini, Nicole Biagi, Elena Uva, Paolo Iovino, Emanuela Pippucci, Tommaso Seri, Marco Cavalli, Andrea Ceccherini, Isabella Rusmini, Marta Viti, Federica Int J Mol Sci Review The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of the most challenging issues in WGS analysis regards the interpretation of annotated variants. This review focuses on tools suitable for the functional annotation of variants falling into non-coding regions. It couples the description of non-coding genomic areas with the results and performance of existing tools for a functional interpretation of the effect of variants in these regions. Tools were tested in a controlled genomic scenario, representing the ground-truth and allowing us to determine software performance. MDPI 2022-10-26 /pmc/articles/PMC9654743/ /pubmed/36361767 http://dx.doi.org/10.3390/ijms232112977 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Tabarini, Nicole
Biagi, Elena
Uva, Paolo
Iovino, Emanuela
Pippucci, Tommaso
Seri, Marco
Cavalli, Andrea
Ceccherini, Isabella
Rusmini, Marta
Viti, Federica
Exploration of Tools for the Interpretation of Human Non-Coding Variants
title Exploration of Tools for the Interpretation of Human Non-Coding Variants
title_full Exploration of Tools for the Interpretation of Human Non-Coding Variants
title_fullStr Exploration of Tools for the Interpretation of Human Non-Coding Variants
title_full_unstemmed Exploration of Tools for the Interpretation of Human Non-Coding Variants
title_short Exploration of Tools for the Interpretation of Human Non-Coding Variants
title_sort exploration of tools for the interpretation of human non-coding variants
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654743/
https://www.ncbi.nlm.nih.gov/pubmed/36361767
http://dx.doi.org/10.3390/ijms232112977
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