Reference Sequences


Definition

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


Reference Sequence Types

Depending on the variants to be reported, different reference sequence files are used at the DNA, RNA or protein level. The type of reference sequence file used is indicated using a prefix preceding the variant description. Approved reference sequence types are g., m., c., n., r. and p.:


DNA - genomic reference sequence

DNA - Mitochondrial reference sequence

See genomic reference sequence.

DNA - coding DNA reference sequence

DNA - non-coding DNA reference sequence

RNA reference sequence

Protein reference sequence


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