A targeted mutation file is a text file format (extension: .vcf) containing a list of variants of interest, primarily single nucleotide variants (SNVs), short insertions and short deletions. Variants are listed in the file by chromosomal position, reference and alternate sequences which define each variant. Users supply Archer Analysis with a targeted mutation file before initiating an analysis job; Archer Analysis version 4.0 utilizes this information to further annotate variant results and optionally narrow the focus of variant calling for both the RNA SNP/InDel and DNA SNP/InDel analysis pipelines.
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