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. It is mandatory to indicate the type of reference sequence file 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

DNA - coding DNA reference sequence

DNA - non-coding DNA reference sequence


RNA reference sequence


Protein reference sequence


Q&A