The package huGSVcalleR includes over 35 high-level functions written in R and/or C++ programming languages. This package combines all functions into an integrated pipeline aimed at identification and annotation of single nucleotide polymorphism sites in whole genome or targeted sequencing data. The complete pipeline includes six modules: quality control of raw reads, alignment of reads, data preparing for calling, calling of primary variants, filtering of primary variants and annotation of filtered variants. The calling of variants can be done using six different approaches, at the end-user's choice. The main feature of the annotation module (and one of the key tasks solved by this package) is the linking of detected polymorphism sites to splicing machinery.
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The package huGSVcalleR includes over 35 high-level R and/or C++ functions combined into single pipeline aimed at identification and annotation of SNVs in sequencing data. The calling of variants can be done using six different approaches. The main feature of the annotation module of package is the linking of detected SNVs to splicing machinery.
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VGrinev/huGSVcalleR
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The package huGSVcalleR includes over 35 high-level R and/or C++ functions combined into single pipeline aimed at identification and annotation of SNVs in sequencing data. The calling of variants can be done using six different approaches. The main feature of the annotation module of package is the linking of detected SNVs to splicing machinery.
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