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

February 6, 2014 Leave a comment 11,888 Views

Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, researchers at University of Milano–Bicocca, Italy developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) ...

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