Management of intergeneic/noncoding regions of interest
- Dominant language
- Python
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- Avg merge
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Description
Reminder to check management of variants in intergenic/noncoding regions of interest e.g. Locus Control Regions etc. Currently we know we miss some important genic non-coding regions e.g. 5' UTR region of ANKRD1 (known pathogenic) in our analyses, can expect that we're also missing important intergenic regions.
More complicated as:
- no gene symbols
- limited annotations & population data
- mostly omitted from pathogenicity predictors
Not sure how this impacts how VG manages these variants given most workflows are gene-centric, also not sure how filtering and classification is handled. Currently outside of scope of most analyses, however, will become more important as WGS & CNV increase & these regions become better defined.
Minor, low priority
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