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CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
BACKGROUND: Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are challenging to identify beyond those occurring at donor and acceptor dinucleotid...
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| Veröffentlicht in: | Genome Med |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7901104/ https://ncbi.nlm.nih.gov/pubmed/33618777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00835-9 |
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