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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Detalles Bibliográficos
Autores principales: Rentzsch, Philipp, Schubach, Max, Shendure, Jay, Kircher, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
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

Internet

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

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