Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases

Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, we developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) data (SpliceFinder). SpliceFinder...

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Detalhes bibliográficos
Main Authors: Spinelli, Roberta, Pirola, Alessandra, Redaelli, Sara, Sharma, Nitesh, Raman, Hima, Valletta, Simona, Magistroni, Vera, Piazza, Rocco, Gambacorti-Passerini, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865592/
https://ncbi.nlm.nih.gov/pubmed/24498620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.23
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