we're considering perform functional studies of intronic variants in several genes - could anyone update me on the current trends, besides more conventional methods? (e.g. luciferase assay etc.).
it is challenging to analyses any Non-coding variants. However, one can check signals of enhancers and promoters, perform CADDv1.3 and several other strategies. Finally pick a few for testing based on computational predictions.
I totally agree with Abhishek. It is really challenging to study non-coding variant but you can predict their effect using many software. For instance, SIFT http://sift.jcvi.org/ and many others are available online.
thanks for now. What are the most dedicated in silico algorithms for functionally relevant regulatory elements sites prediction? Also cryptic deep intronic splice sites prediction?