Article
In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing.
Current protocols in human genetics - 1 Apr 2018
Patel Parth N, Gorham Joshua M, Ito Kaoru, Seidman Christine E
Abstract excerpt
Identification of sequence variants that create or eliminate splice sites has proven to be a significant challenge and represents one of many roadblocks in the clinical interpretation of rare genetic variation. Current methods of identifying splice altering sequence variants exist, however, these are limited by an imperfect understanding of splice signals and cumbersome functional assays. We have recently...
Topics
- Computational Biology
- Genetic Variation
- High-Throughput Nucleotide Sequencing
- Humans
- In Vitro Techniques
- RNA
- RNA Splicing
- Sequence Analysis, DNA