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Variant classification

623 bytes added, 09:25, 5 September 2014
Definitions
= Definitions =
The normalization definition of a variant representation in VCF consists is based on the definition of each allele with respect to the reference sequence. We consider 5 major types as follows. ;1. SNP: The reference and alternate sequences are of two partslength 1 and the base nucleotide is different from one another.;2. MNP: parsimony a.The reference and alternate sequences are of the same length and left alignment pertaining have to be greater than 1 and all nucleotides in the sequences differ from one another.: OR: b. all reference and alternate sequences have the same length.;INDEL: a. The reference and alternate sequence are not the nature same length.: AND: b. The removal of a subsequence of the longer sequence would reduce the longer sequence to the smaller sequence.;CLUMPED: ;SV: The alternate sequence is represented by a variant's length and position respectivelyangled bracket tag - <DEL>, for example.
= Example =
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