Article

SmartRNASeqCaller: improving germline variant calling from RNAseq

2019-06-27

Abstract excerpt

<h4>Background</h4> Transcriptomics data, often referred as RNA-Seq, are increasingly being adopted in clinical practice due to the opportunity to answer several questions with the same data - e.g. gene expression, splicing, allele-specific expression even without matching DNA. Indeed, recent studies showed how RNA-Seq can contribute to decipher the impact of germline variants. These efforts allowed to dramatical...

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Literature Corpus work: 167cb96d-62fc-543a-bd13-1a3a1ea8f72e
DOI: 10.1101/684993

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