Figure 1
From: Computational approaches to interpreting genomic sequence variation
A set of annotation terms used to describe the potential effects of sequence variants according to the genic regions they fall in and their allele sequences. The terms are drawn from the Sequence Ontology and are depicted on the molecules they are predicted to affect. Variants categorized as any of the terms 2, 4, 9 and 10 are often collectively referred to as ‘loss-of-function’ variants, and are typically expected to severely affect gene function [25].