(P3) Manuscript figure 3E on the variant types that have been flagged through the CvC project

[PamRobertson]

@larrybabb can you please generate a spreadsheet so that we can see 1) all variants in ClinVar (separated by variant type) and then 2) the variants that have been flagged through CvC (separated by variant type)

The grouping of variants would be:

• predicted LOF (nonsense, frameshift, splice donor, splice acceptor)
• missense
• inframe indels (inframe insertions, inframe deletion, inframe insertion-deletion variants)
• UTR/intronic (5'UTR, 3'UTR, intronic variants)
• other (synonymous, stop loss, initiator codon and anything else that doesn't fit in the other categories)

This was the original spreadsheet you had provided for reference: https://docs.google.com/spreadsheets/d/1sE8BmIOUxd8ES9MA7_GVpNeeWUDUn-y7Wn05lzQqc4k/edit?gid=1381882892#gid=1381882892

@larrybabb @dazzariti

[PamRobertson]

Priority 3 @larrybabb

[larrybabb]

@PamRobertson et al Please review the data for this updated figure 3 found here.

[PamRobertson]

@larrybabb as discussed in today's manuscript meeting 02/23. Instead of having two piecharts for these variants types (submitted to ClinVar and flagged), we want to condense into one figure showing the relative percentages in a bar chart.
So for example pLoF in ClinVar is 6.8% compared to pLoF that has been flagged 19% >> show these side by side.

@dazzariti

[dazzariti]

@larrybabb Here is the one we discussed today, I removed Pam as an assignee