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  • 3.3 - Tool SCORER (Splice Site Scoring)

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For time efficiency, the positions of all genetic variants are loaded into the computer's memory (RAM), so it is to be ensured that enough memory is provided to the Java Virtual Machine. As an orientation, the variants from the 1000 Genomes project phase 1 and phase 2 comprise just for the  just for chr22 occupy 6.4 Gb of disk and require ~1.5Gb for running splice site scoring.

 

 

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[ERROR] Splice site scoring requires the genomic sequence, provide a value for parameter 'CHR_SEQ' in the parameter file, or via the command line flags -c or --chr!

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