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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901104/ https://www.ncbi.nlm.nih.gov/pubmed/33618777 http://dx.doi.org/10.1186/s13073-021-00835-9 |