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 c., g., m., n., o., p. and r.:


DNA - genomic reference sequence (g.)

DNA - Cicular genomic reference sequence (o.)

DNA - Mitochondrial reference sequence (m.)

DNA - coding DNA reference sequence (c.)

DNA - non-coding DNA reference sequence (n.)


RNA reference sequence (r.)


Protein reference sequence (p.)


Q&A