| URL: | http://rytenlab.com/browser/app/vizER |
| Full name: | Visualisation of Expressed Regions |
| Description: | A novel annotation incorporating constrained, non-conserved metrics to highlight human-lineage-specific genomic regions is generated, which prioritises genes and transcripts of relevance to disease, specifically in the identification of functionally important non-coding genomic regions. Thus this online web resource, vizER, is developed with the primary goal of aiding clinical scientists and clinicians to visualise misannotations of any gene of interest, enabling better variant prioritisation and as a result, diagnosis of both Mendelian disorders and complex genetics diseases. |
| Year founded: | 2020 |
| Last update: | |
| Version: | |
| Accessibility: |
Accessible
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| Country/Region: | United Kingdom |
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| University/Institution: | University College London |
| Address: | 30 Guilford Street, London WC1N 1EH |
| City: | London |
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| Country/Region: | United Kingdom |
| Contact name (PI/Team): | Mina Ryten |
| Contact email (PI/Helpdesk): | mina.ryten@ucl.ac.uk |
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Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. [PMID: 32917675]
Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. We connect this unannotated transcription to known genes, confirming that human gene annotation remains incomplete, even among well-studied genes including 63% of the Online Mendelian Inheritance in Man-morbid catalog and 317 neurodegeneration-associated genes. We find the greatest abundance of unannotated transcription in brain and genes highly expressed in brain are more likely to be reannotated. We explore examples of reannotated disease genes, such as , for which we experimentally validate a previously unidentified, brain-specific, potentially protein-coding exon. We release all tissue-specific transcriptomes through vizER: http://rytenlab.com/browser/app/vizER We anticipate that this resource will facilitate more accurate genetic analysis, with the greatest impact on our understanding of Mendelian and complex neurogenetic disorders. |