Listar1. Investigación por tema "RNA"
Mostrando ítems 1-2 de 2
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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
(Hindawi, 2018)[Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ... -
HSRA: Hadoop-based spliced read aligner for RNA sequencing data
(Public Library of Science, 2018-07-31)[Abstract] Nowadays, the analysis of transcriptome sequencing (RNA-seq) data has become the standard method for quantifying the levels of gene expression. In RNA-seq experiments, the mapping of short reads to a reference ...