Details
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Type:
Task
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Status: Closed (View Workflow)
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Priority:
Major
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Resolution: Done
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Affects Version/s: None
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Fix Version/s: None
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Labels:None
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Story Points:1
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Epic Link:
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Sprint:Fall 1, Fall 2
Description
In preparation for the talk Dr. Freese is giving in September, let's create two (or more?) postcards showing data from individual genome sequencing.
Dr. Freese can pass these out at the meeting to help the audience better understand what the data look like.
We can use these same postcards at the ASHG meeting, as well.
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Activity
After talking through each of these points with Dr. Freese, I've made much of the changes suggested above! Here are those answers/changes:
Asparagus anosmia card:
- The A allele is what causes asparagus anosmia, so having the SNP at this site actually decreases a person's likelihood of experiencing the smell!
- I've added a key at the end of the blurb that breaks down how each genotype affects asparagus anosmia.
- I've also linked to a couple of papers and the SNP's listing on dbSNP in the Notes section for reference.
- No, the SNP is not located in a gene, hence the lack of the gene track in this image!
Restless legs syndrome:
- The SNP is what's associated with this trait, not the gene (see the resources I've added to the Notes section of this slide).
- I've changed the wording I used throughout this postcard blurb to be less vague/wishy-washy. I counted alleles at this site and ensured that that individual is indeed heterozygous and changed my wording to match that conclusion.
Overall image quality:
- I increased the text size of the track labels on both images. I also removed that tray tab on the RLS card so that both postcards look consistent. Finally, I centered the SNP on the RLS card (it was off-center before).
Ready for review!
Dropbox > IGB > Outreach > Images > Postcards > PersonalGenomicsPostcards-V2.pptx
The asparagus blurb doesn't make sense:
The vertical zoom stripe highlights...SNP (rs4481887)...associated with the ability to smell asparagus metabolites in urine (i.e., asparagus anosmia).
"Anosmia" means: inability to smell something, not "ability" to smell something. Is this some weird condition where the meaning is reversed?
Instead of "individual" can we just say "person"? It sounds weird and distancing to do that.
When was the last time you heard someone use the word "individual" to describe someone? Watch the news and make a note of when you hear someone use that word. Who are they talking about? (Hint: How do cops refer to people?)
Possible alternative blurb, assuming "asnomia" means "insensitivity":
This image from Integrated Genome Browser shows genome sequence from two people at SNP rs4481887, associated with asparagus anosmia, the inability to smell asparagus metabolites in urine. The person in the bottom row is homozygous for the "G" insensitivity allele and probably can't smell asparagus metabolites. A semi-transparent zoom stripe highlights the SNP. The zoom stripe label reports the genomic position.
I didn't include the genome version since it didn't seem that important and also the title bar shows that. I also didn't include the fact that Nebula did the sequencing because I didn't want to name-drop a company.
That's a typo – the description should read, "...associated with the inability to smell asparagus metabolites in urine (i.e., asparagus anosmia)."
I've added an alternative blurb to the Asparagus anosmia card on the working slide deck/document (see my last comment for the full file path). I also changed the wording on the Restless legs syndrome card to avoid use of the word "individual".
Ready for review.
I made some edits. I hope everybody will be happy with them! I am moving the ticket to "DONE" as I have no further changes to recommend and I think the cards are exactly what we need.
Much appreciation to Paige Kulzer and Nowlan Freese for getting these done!
I've drafted two new postcard ideas which can be found here: Dropbox / IGB / Outreach / Images / Postcards / PersonalGenomics-Postcards.pptx