Title
The importance of identifying alternative splicing in vertebrate genome annotation.
Abstract
While alternative splicing (AS) can potentially expand the functional repertoire of vertebrate genomes, relatively few AS transcripts have been experimentally characterized. We describe our detailed manual annotation of vertebrate genomes, which is generating a publicly available geneset rich in AS. In order to achieve this we have adopted a highly sensitive approach to annotating gene models supported by correctly mapped, canonically spliced transcriptional evidence combined with a highly cautious approach to adding unsupported extensions to models and making decisions on their functional potential. We use information about the predicted functional potential and structural properties of every AS transcript annotated at a protein-coding or non-coding locus to place them into one of eleven subclasses. We describe the incorporation of new sequencing and proteomics technologies into our annotation pipelines, which are used to identify and validate AS. Combining all data sources has led to the production of a rich geneset containing an average of 6.3 AS transcripts for every human multi-exon protein-coding gene. The datasets produced have proved very useful in providing context to studies investigating the functional potential of genes and the effect of variation may have on gene structure and function.
Year
DOI
Venue
2012
10.1093/database/bas014
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
Keywords
Field
DocType
genome,alternative splicing
Genome,Annotation,Genome project,Proteomics,Computer science,Alternative splicing,Bioinformatics,Locus (genetics),Molecular Sequence Annotation,Vertebrate and Genome Annotation Project
Journal
Volume
ISSN
Citations 
2012
1758-0463
3
PageRank 
References 
Authors
0.45
4
4
Name
Order
Citations
PageRank
Adam Frankish1575.40
Jonathan M Mudge2353.53
Mark Thomas3241.82
Jennifer Harrow41218.76