Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View

Assessing the impact of variants of unknown significance on splicing has become a critical issue and a bottleneck, especially with the widespread implementation of whole-genome or exome sequencing. Although multiple in silico tools are available, the interpretation and application of these tools are...

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Detalles Bibliográficos
Autores principales: Jang, Woori, Park, Joonhong, Chae, Hyojin, Kim, Myungshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9584665/
https://www.ncbi.nlm.nih.gov/pubmed/36275637
http://dx.doi.org/10.1155/2022/5265686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9584665/
https://www.ncbi.nlm.nih.gov/pubmed/36275637
http://dx.doi.org/10.1155/2022/5265686

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