Article
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Human mutation - 1 Oct 2020
Canson Daffodil, Glubb Dylan, Spurdle Amanda B
Abstract excerpt
It is possible to estimate the prior probability of pathogenicity for germline disease gene variants based on bioinformatic prediction of variant effect/s. However, routinely used approaches have likely led to the underestimation and underreporting of variants located outside donor and acceptor splice site motifs that affect messenger RNA (mRNA) processing. This review presents information about hereditary cancer...
Topics
- Computational Biology
- Genes, BRCA2
- Genetic Predisposition to Disease
- Humans
- Neoplasms
- Oncogenes
- RNA Splice Sites
- RNA Splicing