Variant Annotation/Interpretation (WIP)
Summary of proposed analysis
Hypothesis
Noncoding variants or rare variants in under-studied genes (i.e. not SMARCB1, LZTR1, or NF2) contribute to dysregulation of RNA transcription that leads to the development of schwannomas.
What are the scientific goals of the analysis?
To annotate and prioritize variants in order to prioritize variants of interest.
What methods do you plan to use to accomplish the scientific goals?
We may want to try various annotation tools. Options include GenomeNexus and VEP. Annotations of interest may include SIFT, PolyPhen, gnomAD, CADD, pLI, and LINSIGHT scores.
What input data are required for this analysis?
How long to you expect the analysis will take to complete?
Who will complete the analysis (add GitLab handle if relevant)? Are you looking for additional individuals to work on this analysis?
What relevant scientific literature relates to this analysis?
Edited by Sasha Scott