The state of play in higher eukaryote gene annotation

Authors:
Publisher website
Google Scholar
Abstract
Gene annotation is one of the core mechanisms through which we decipher the information that is contained in genome sequences. Gene annotation is complicated by the existence of 'transcriptional complexity', which includes extensive alternative splicing and transcriptional events outside of protein-coding genes. The annotation strategy for a given genome will depend on what it is hoped to achieve, as well as the resources available. The availability of next-generation data sets has transformed gene annotation pipelines in recent years, although their incorporation is rarely straightforward. Even human gene annotation is far from complete: transcripts are missing and existing models are truncated. Most importantly, 'functional annotation' — the description of what transcripts actually do — remains far from comprehensive. Efforts are now under way to integrate gene annotation pipelines with projects that seek to describe regulatory sequences, such as promoter and enhancer elements. Gene annotation is producing increasingly complex resources. This can present a challenge to usability, most notably in a clinical context, and annotation projects must find ways to resolve such problems.

This publication has 136 references indexed in Scilit: