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

Journal article

The advent of cost-effective high-throughput nucleotide sequencing means that information about the transcriptome is accruing at an exponential rate, rapidly refining our understanding of the diversity of gene products. It is important that these findings are readily accessible to the wider scientific community to maximise their impact. However, there are multiple barriers to their efficient dissemination and their translation into functional insights. Here, we outline how the status quo can result in information becoming siloed and/or ambiguous, using the CACNA1C gene, which encodes a voltage-gated calcium channel, as an example. We highlight three areas that pose potential barriers to effective information transfer and offer suggestions as to how these may be addressed: firstly, a lack of clarity about the strength of the evidence for individual transcripts in current annotations; secondly, limitations to the transfer of information between nucleotide and protein databases; thirdly, challenges relating to the nomenclature used for transcriptional events and RNA modifications, both for genomic researchers and the wider scientific community

Authors: Hall, NAL; Carlyle, BC; Haerty, W; Tunbridge, EM

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: BioMed Central
• Journal: Genome Biology
• Volume: 22
• Issue: 1
• Pages: 320-320
• Article number: 320
• Publication date: 2021-11-22
• DOI: 10.1186/s13059-021-02542-5
• EISSN: 1474-760X
• ISSN: 1474-7596
• Language: English
• Keywords: Gene; Computer science; Bioinformatics; Data science; Computational biology; Human genetics; Biology; Genomics; Evolutionary biology; Genome; Computational genomics; Genetics; Genome Biology