In silico identification of pseudo-exon activation events in personal genome and transcriptome data
Author:
Affiliation:
1. Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
Funder
JSPS Grants-in-Aid for Scientific Research
Publisher
Informa UK Limited
Subject
Cell Biology,Molecular Biology
Link
https://www.tandfonline.com/doi/pdf/10.1080/15476286.2020.1809195
Reference39 articles.
1. Genome-wide in situ exon capture for selective resequencing
2. The promise of whole-exome sequencing in medical genetics
3. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs
4. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
5. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases
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