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Revision as of 11:33, 5 September 2014
, 11:33, 5 September 2014→Definitions
= Definitions =
= Definitions =
The definition of a variant is based on the definition of each allele with respect to the reference sequence. We consider 5 major types as follows.
The definition of a variant is based on the definition of each allele with respect to the reference sequence. We consider 5 major types loosely defined as follows.
;1. SNP
;1. SNP
: b. The removal of a subsequence of the longer sequence would reduce the longer sequence to the smaller sequence.
: b. The removal of a subsequence of the longer sequence would reduce the longer sequence to the smaller sequence.
;4. CLUMPED
;4. CLUMPED
:
: a. A clumping of nearby SNPs, MNPs or Indels.
;5. SV
;5. SV
: The alternate sequence is represented by a angled bracket tag.
: The alternate sequence is represented by a angled bracket tag.
