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Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency

Understanding the functional impact of genomic variants is a major goal of modern genetics and personalized medicine. Although many synonymous and non-coding variants act through altering the efficiency of pre-mRNA splicing, it is difficult to predict how these variants impact pre-mRNA splicing. Her...

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Detalles Bibliográficos
Autores principales: Adamson, Scott I., Zhan, Lijun, Graveley, Brenton R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984807/
https://www.ncbi.nlm.nih.gov/pubmed/29859120
http://dx.doi.org/10.1186/s13059-018-1437-x