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Detecting haplotype-specific transcript variation in long reads with FLAIR2

BACKGROUND: RNA-Seq has brought forth significant discoveries regarding aberrations in RNA processing, implicating these RNA variants in a variety of diseases. Aberrant splicing and single nucleotide variants in RNA have been demonstrated to alter transcript stability, localization, and function. In...

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Detalles Bibliográficos
Autores principales: Tang, Alison D., Hrabeta-Robinson, Eva, Volden, Roger, Vollmers, Christopher, Brooks, Angela N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10312636/
https://www.ncbi.nlm.nih.gov/pubmed/37398362
http://dx.doi.org/10.1101/2023.06.09.544396