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Posts by Karyn Meltz Murphy

Check in on the spurs fans in your life—we are not ok #coys

4 weeks ago 2 1 0 0

Join us tomorrow to hear more about our recent paper—I promise it will be a raging online party*

*ok I can’t promise that but it will be good

3 months ago 3 1 0 0

My condolences, Carl. May his memory be a blessing.

3 months ago 0 0 0 0
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I sipped a manhattan while making miso black cod.

5 months ago 8 2 2 0
'Genomic-First' Search in Geisinger MyCode Participants Reveals Undetected Rare Disease Variants Researchers profiled 2,701 rare disease genes in the exomes of 218,680 Geisinger MyCode participants, uncovering positive findings in 2.5 percent of them.

Read more about this exciting work! www.genomeweb.com/sequencing/g...

6 months ago 1 1 0 0
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A scalable approach for genomic-first rare disorder detection in a healthcare-based population Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying p...

📣New today!
📄A scalable approach for genomic-first rare disorder detection in a healthcare-based population
🧑‍🤝‍🧑 @karynotype.bsky.social & @geisinger.bsky.social colleagues

6 months ago 6 1 1 0
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A scalable approach for genomic-first rare disorder detection in a healthcare-based population Our understanding of rare genetic disorders (RGDs) comes largely from clinically ascertained individuals. Genomic-first ascertainment, however, can id…

Full text here: www.sciencedirect.com/science/arti...

6 months ago 0 0 0 0
Preview
A scalable approach for genomic-first rare disorder detection in a healthcare-based population Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying p...

I’m pleased as punch to share our hot off the presses article in @ajhgnews.bsky.social : A scalable approach for genomic-first rare disorder detection in a healthcare-based population

Also presenting next week at #ashg25 #ashg2025

www.cell.com/ajhg/abstrac...

6 months ago 14 3 1 0

It’s been a hot minute since I was in academia and regularly publishing, but apparently the smell of manuscript acceptance in the morning still hits the same!

7 months ago 1 0 0 0
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Beloit, WI revitalized its waterfront and chose this way to celebrate it: by bringing to life Georges Seurat's "A Sunday Afternoon on the Island of La Grande Jatte."

9 months ago 28458 4233 633 413

I first read that as “grift link”

10 months ago 10 0 0 0

Ugh I’m sorry to hear this

11 months ago 4 0 0 0

She’s my daughter’s cat. My daughter’s name is Zoe 😊

11 months ago 1 0 1 0
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This is Mimi—probably their cousin

11 months ago 1 0 1 0

New pope. Who dis?

11 months ago 2 0 0 0

I read this in David Attenborough’s voice in my head

1 year ago 6 0 1 0

Right? Lol

1 year ago 1 0 0 0
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Pie and pop? Pie and pop!

1 year ago 6 0 0 0

Well we had to drain all the fat off our boneless skinless chicken breasts during the late 90s/early aughts. Couldn’t use a regular pan…

1 year ago 1 0 0 0

Sigh

1 year ago 2 0 0 0
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Lungfish xkcd.com/3064

1 year ago 11898 1307 96 87

Good idea about setting to private

1 year ago 0 0 1 0

Did people here completely delete their twittr/x profile? I haven’t been on in ages but wondering if I should wipe it clean…

1 year ago 1 0 1 0
2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING!
2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING! YouTube video by Anti Trump

You GUYYYYSSSSSSS

The military choir sang Do You Hear the People Sing from Les Mis at the governor's dinner at the white house. Thanks to @beebrookshire.bsky.social for helping me fact check tihs one. As far as I can it's only "officially" been posted on Dan Scavino's FB

1 year ago 6160 1828 82 605

The #agbt25 FOMO is real

1 year ago 0 0 0 0
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Mostly genes but I was having issues with pubmed yesterday. It seems to be resolved now

1 year ago 1 0 0 0

Yes I’m having issues with anything on ncbi 😞

1 year ago 1 0 1 0

Can we at least be home by 9pm?

1 year ago 8 1 1 0

That’s a lie! I power walk at best

1 year ago 1 0 1 0

Do NOT add me to this list 😂😂😂

Unless there’s tigers chasing us

1 year ago 1 0 1 0