Roadblock: improved annotations do not necessarily translate into new functional insights

[...]although annotations continue to improve, inaccuracies are introduced by the need to computationally reconstruct full-length transcript isoforms from short-read data [2]. [...]it is possible that some currently annotated full-length isoforms are either incomplete or represent false positives [3...

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Bibliographic Details
Published in:Genome Biology 2021-11, Vol.22 (1), p.320-320, Article 320
Main Authors: Hall, Nicola A L, Carlyle, Becky C, Haerty, Wilfried, Tunbridge, Elizabeth M
Format: Article
Language:English
Subjects:
Amino acid sequence
Annotations
Brain
Calcium Channels, L-Type - genetics
Databases, Genetic
Genomics - methods
Humans
Information sources
Isoforms
Molecular Sequence Annotation - methods
Nucleotide sequence
Peptides
Proteins
Transcription
Transcriptome
Transcriptomics
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Summary:[...]although annotations continue to improve, inaccuracies are introduced by the need to computationally reconstruct full-length transcript isoforms from short-read data [2]. [...]it is possible that some currently annotated full-length isoforms are either incomplete or represent false positives [3]. [...]current annotations, even those generated using RNA-seq data, remain far from complete. Conversely, although information from Uniprot is used to refine Ensembl annotations [14], sequence information from Uniprot does not directly get incorporated into these annotations. [...]although efforts are made to try and link the protein and nucleotide sequence information repositories, there remain significant differences between them. [...]the functional impact of CACNA1C splicing is well studied and much information predates transcriptomic annotations [9, 10]. [...]whilst generic exon-specific nomenclature exists (e.g. Ensembl’s ENSE references), it is not widely used by the calcium channel community.
ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-021-02542-5