A tool to create personalized genome sequences
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.