Annotation
Annotation refers to the process of determining how genomic variants alter known genes, transcripts, or other functional elements, as well as linking co-localized information that is known about that position in the genome.
The alteration of known genes or transcripts is predicted based on their known locations in the genome and the triplet code. When predicting the consequence of a variant, the affected protein product is not directly measured but inferred from what is known about the underlying biological cellular processes of transcriptional or translational genetics.