Entering edit mode
4.3 years ago
Kermit
▴
90
When looking at SNV and CNV in intronic regions, what annotations should be taken into account?
Here is what I can think of so far:
- Histone regions
- Regulatory sites (splicing)
- Transcription factors
- eQTL catalogs (GTEx, Expression Atlas)
Evolutionary conservation (phastCons scores) might contribute to identify conserved (and therefore potentially meaningful) genomic sites.
Thank you. I'm having a look now. What kinds of questions would this help you answer about a gene or variant?