SACGF / SACGF/variantgrid

Genes with Large Number of Transcripts

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#1,480 2 comments 0 reactions 1 assignee Assigned to @EmmaTudini View on GitHub
Annotation VEP
Dominant language
Python
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30
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3
Avg merge
9h 28m
Merged PRs (30d)
42

Description

[040326_txpergene.xlsx](https://api.zenhub.com/attachedFiles/eyJfcmFpbHMiOnsibWVzc2FnZSI6IkJBaHBBMEZBRFE9PSIsImV4cCI6bnVsbCwicHVyIjoiYmxvYl9pZCJ9fQ==--5935fd0606cf81ebb7628e10a57daeb0df609a73/040326_txpergene.xlsx)

BRCA1 has lots of transcripts causes VEP annotation issues, workaround is restricting to a whitelist of relevant transcripts (see #1228)

Plan: download ClinVar records for genes with high # transcripts (? top 10- see attached spreadsheet) and import into Shariant Test.

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