Abstract 5296: R2D2: An integrated analysis framework to infer the functional impact of single nucleotide variants (SNVs) using matched germline and tumor DNA and RNA sequencing data
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DOI: 10.1158/1538-7445.am2018-5296
Abstract: Introduction: Single nucleotide variants (SNVs) are the most abundant genetic variation in the human genome. Unlike protein-truncating alterations, the functional impact of SNVs can be very difficult to infer from DNA sequencing alone. Although functional… read more here.
Keywords: functional impact; snvs; dna rna; r2d2 ... See more keywords