CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Abstract 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 din...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-02-01
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| Series: | Genome Medicine |
| Online Access: | https://doi.org/10.1186/s13073-021-00835-9 |