Existing Wording: Definition

A reference sequence is a sequence that is used to represent an allele or variant.

Proposed Wording: Change to the HGVS definition:

a sequence file that is used as a reference to describe variants that are present in a sequence analyzed.

Comment:

The definition of reference sequence is unclear and does not fit the conventional definition. The more traditional way of defining this is to say it is the standard or normal nucleotide or amino acid sequence against which a sample sequence is compared to detect variations (AKA mutations). HGVS defines a reference sequence as "a sequence file that is used as a reference to describe variants that are present in a sequence analyzed."

Summary:

reference sequence definition