Journal article
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
- Abstract:
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Background The diagnostic rate in Mendelian disorders continues to hover around 50% after genomic testing, meaning that around half of families and clinicians are left with no actionable answer. Variants affecting splicing motifs are particularly challenging to interpret. To conclusively link a splicing variant to disease it’s necessary to determine the consequences of altered splicing on the final mRNA transcript and subsequent protein. Consequently, most probable splicing variants are clas...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 2.0MB, Terms of use)
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- Publisher copy:
- 10.1038/s41467-022-29271-y
- Publication website:
- https://ses.library.usyd.edu.au/bitstream/2123/29744/5/dawes_rd_thesis.pdf
Authors
+ Department of Health | National Health and Medical Research Council
More from this funder
- Funder identifier:
- 10.13039/501100000925
- Grant:
- APP1136197
- Publisher:
- Nature Research
- Journal:
- Nature Communications More from this journal
- Volume:
- 13
- Issue:
- 1
- Pages:
- 1655-1655
- Article number:
- 1655
- Publication date:
- 2022-03-29
- DOI:
- EISSN:
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2041-1723
- ISSN:
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2041-1723
- Language:
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English
- Keywords:
- Pubs id:
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1618890
- Local pid:
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pubs:1618890
- Source identifiers:
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W4221068611
- Deposit date:
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2026-06-05
- ARK identifier:
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- Copyright date:
- 2022
- Licence:
- CC Attribution (CC BY)
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