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Reposted by Karyn Meltz Murphy

The American Journal of Human Genetics @ajhgnews.bsky.social · 2d

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

'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.

www.genomeweb.com

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Reposted by Karyn Meltz Murphy

The American Journal of Human Genetics @ajhgnews.bsky.social · 2d

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

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...

www.cell.com

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Karyn Meltz Murphy @karynotype.bsky.social · 2d

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

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…

www.sciencedirect.com

Karyn Meltz Murphy @karynotype.bsky.social · 2d

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...

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...

www.cell.com

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Karyn Meltz Murphy @karynotype.bsky.social · Aug 21

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!

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Reposted by Karyn Meltz Murphy

barbararogan.bsky.social @barbararogan.bsky.social · Jun 25

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."

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Karyn Meltz Murphy @karynotype.bsky.social · May 25

I first read that as “grift link”

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Karyn Meltz Murphy @karynotype.bsky.social · May 14

Ugh I’m sorry to hear this

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 29

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

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 29

This is Mimi—probably their cousin

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 22

New pope. Who dis?

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 19

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

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 1

Right? Lol

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Karyn Meltz Murphy @karynotype.bsky.social · Apr 1

Pie and pop? Pie and pop!

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Karyn Meltz Murphy @karynotype.bsky.social · Mar 24

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…

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Karyn Meltz Murphy @karynotype.bsky.social · Mar 18

Sigh

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Reposted by Karyn Meltz Murphy

Randall Munroe @xkcd.com · Mar 17

Lungfish xkcd.com/3064

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Karyn Meltz Murphy @karynotype.bsky.social · Feb 28

Good idea about setting to private

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Karyn Meltz Murphy @karynotype.bsky.social · Feb 28

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

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Reposted by Karyn Meltz Murphy

Kendra "Gloom is My Beat" Pierre-Louis @kendrawrites.com · Feb 23

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