broadinstitute / seqr

web-based analysis tool for rare disease genomics
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On time download of MME data split by CMG vs non-CMG #1883

Closed sambaxter closed 3 years ago

sambaxter commented 3 years ago

Is your feature request related to a problem? Please describe. For the final CMG publication we need to break down the seqr matchmaker stats by CMG vs non-CMG.

Describe the solution you'd like I need a one time download of the seqr stats broken down by CMG cases vs non CMG cases. You can use the CMG project category as a proxy for determining if a sample is CMG or not (if it is in a project that has a CMG project category = CMG cases, if the project doe NOT have a CMG project category then = non-CMG case)

Additional context Ideally I would like this by next Tuesday as we are sending out the draft for review, but the stats are in a google doc so we can put a note that we will update later if it needs to be pushed out a week or two.

hanars commented 3 years ago

Do we want to include projects with the "non-report CMG" project category as CMG or no?

sambaxter commented 3 years ago

"non-report CMG" can be considered for CMG for this purpose

sambaxter commented 3 years ago

@hanars - do you have a sense of when you will have these numbers? I will put holder numbers in the paper for now.

hanars commented 3 years ago

yes I'll get them within the next hour or two, I'm working on it now

hanars commented 3 years ago

CMG: Patients 1015 Genes 1072 Phenotypes 1342 Match Requests Received 247155 Potential Matches Sent 6701 Submitters 77

Non-CMG: Patients 70 Genes 81 Phenotypes 30 Match Requests Received 247155 Potential Matches Sent 6701 Submitters 13

Total: Patients 1085 Genes 1134 Phenotypes 1347 Match Requests Received 247155 Potential Matches Sent 6701 Submitters 81

Note that "Match Requests Received" and "Potential Matches Sent" have to do with the incoming requests from other nodes and I didn't try and break them down by CMHG/non-CMG

sambaxter commented 3 years ago

@hanars - we are still working on submitting this paper and given 2 months have gone by, could you provide me an updated breakdown of these stats?

hanars commented 3 years ago

Is there a due date on this?

sambaxter commented 3 years ago

By the end of next week would be great if possible

On Tue, Jul 27, 2021 at 1:28 PM hanars @.***> wrote:

Is there a due date on this?

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hanars commented 3 years ago

CMG Patients 1051 Genes 1101 Phenotypes 1365 Match Requests Received 261956 Potential Matches Sent 7027 Submitters 78

Non-CMG

Patients | 70 Genes | 81 Phenotypes | 30 Match Requests Received | 261956 Potential Matches Sent | 7027 Submitters | 13

Total Patients 1121 Genes 1163 Phenotypes 1370 Match Requests Received 261956 Potential Matches Sent 7027 Submitters 82