Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14184541
Abstract: Simple Summary PALB2 pathogenic variants confer high risk of breast cancer. Here, we have analyzed the impact of PALB2 variants on splicing, a gene expression step that removes introns to form the mature messenger RNA.… read more here.
Keywords: pathogenic variants; palb2 variants; minigene assays; palb2 ... See more keywords
Predicting the effect of variants on splicing using Convolutional Neural Networks
Sign Up to like & getrecommendations! Published in 2020 at "PeerJ"
DOI: 10.7717/peerj.9470
Abstract: Mutations that cause an error in the splicing of a messenger RNA (mRNA) can lead to diseases in humans. Various computational models have been developed to recognize the sequence pattern of the splice sites. In… read more here.
Keywords: splice; convolutional neural; variants splicing; splice sites ... See more keywords