Insertions and deletions (indels) are a major class of genomic variation associated with human disease. Indels are primarily detected from DNA sequencing (DNA-seq) data but their transcriptional consequences remain unexplored due to challenges in discriminating medium-sized and large indels from splicing events in RNA-seq data.
Pubmed ID: 29673323 RIS Download
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Java toolset for working with next generation sequencing data in the BAM format.
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