ArticleDatabase : the journal of biological databases and curation2012
The importance of identifying alternative splicing in vertebrate genome annotation.
Article in Database : the journal of biological databases and curation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Nucleotide-level distance metrics to quantify alternative splicing implemented in TranD.Nucleic acids research · 2024Article
- Nanopore sequencing reveals endogenous NMD-targeted isoforms in human cells.Genome biology · 2021Article
- Opportunities and challenges in long-read sequencing data analysis.Genome biology · 2020Review
- BRCA1-No Matter How You Splice It.Cancer research · 2019Review
- Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants inNPJ genomic medicine · 2019Article
- Systematic evaluation of isoform function in literature reports of alternative splicing.BMC genomics · 2018Article
- Alternative splicing regulation in tumor necrosis factor-mediated inflammation.Oncology letters · 2017Article
- Genome annotation for clinical genomic diagnostics: strengths and weaknesses.Genome medicine · 2017Review
- Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics.Scientific reports · 2015Article
- APPRIS WebServer and WebServices.Nucleic acids research · 2015Article
- Conserved sequence-specific lincRNA-steroid receptor interactions drive transcriptional repression and direct cell fate.Nature communications · 2014Article
- Genomics of alternative splicing: evolution, development and pathophysiology.Human genetics · 2014Review
- Imprinted and X-linked non-coding RNAs as potential regulators of human placental function.Epigenetics · 2014Review
- Functional transcriptomics in the post-ENCODE era.Genome research · 2013Article
- APPRIS: annotation of principal and alternative splice isoforms.Nucleic acids research · 2013Article
- Recent advances in biocuration: meeting report from the Fifth International Biocuration Conference.Database : the journal of biological databases and curation · 2012Article
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4 authors.
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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. DATABASE URL: http://www.ensembl.org/index.html, http://vega.sanger.ac.uk/index.html.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.