A tool to create personalized genome sequences


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VCF format description



perEditor uses VCF files as input for the variation information. For example, the following lines:


1    1    rs117577454        TA   T

1    101  rs58108140         G    C


mean: first, at chromosome one (first column) position 1 (second column) there is a deletion, where nucleotide A (fourth column) is removed (denoted by the presence of just T at the fifth column); second, at chromosome 1 position 101 there is a SNP, where nucleotide G is replaced by C.


The copy number variations are expressed in a similar way. That is, the sequence to be add (the whole copy number segment) should be specified in the 5th column of the VCF file.