Current and Future Approaches to Classify VUSs in LGMD-Related Genes

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and...

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Detalles Bibliográficos
Autores principales: Li, Chengcheng, Haller, Gabe, Weihl, Conrad C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871643/
https://www.ncbi.nlm.nih.gov/pubmed/35205425
http://dx.doi.org/10.3390/genes13020382
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author Li, Chengcheng
Haller, Gabe
Weihl, Conrad C.
author_facet Li, Chengcheng
Haller, Gabe
Weihl, Conrad C.
author_sort Li, Chengcheng
collection PubMed
description Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and disease diagnosis. Understanding the phenotypic consequences of VUSs can provide clinical guidance regarding LGMD risk and therapy. In this review, we provide a brief overview of the subtypes of LGMD, disease diagnosis, current classification systems for investigating VUSs, and a potential deep mutational scanning approach to classify VUSs in LGMD-related genes.
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spelling pubmed-88716432022-02-25 Current and Future Approaches to Classify VUSs in LGMD-Related Genes Li, Chengcheng Haller, Gabe Weihl, Conrad C. Genes (Basel) Review Next-generation sequencing (NGS) has revealed large numbers of genetic variants in LGMD-related genes, with most of them classified as variants of uncertain significance (VUSs). VUSs are genetic changes with unknown pathological impact and present a major challenge in genetic test interpretation and disease diagnosis. Understanding the phenotypic consequences of VUSs can provide clinical guidance regarding LGMD risk and therapy. In this review, we provide a brief overview of the subtypes of LGMD, disease diagnosis, current classification systems for investigating VUSs, and a potential deep mutational scanning approach to classify VUSs in LGMD-related genes. MDPI 2022-02-19 /pmc/articles/PMC8871643/ /pubmed/35205425 http://dx.doi.org/10.3390/genes13020382 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
Li, Chengcheng
Haller, Gabe
Weihl, Conrad C.
Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title_full Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title_fullStr Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title_full_unstemmed Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title_short Current and Future Approaches to Classify VUSs in LGMD-Related Genes
title_sort current and future approaches to classify vuss in lgmd-related genes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871643/
https://www.ncbi.nlm.nih.gov/pubmed/35205425
http://dx.doi.org/10.3390/genes13020382
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