Karyn Meltz Murphy
karynotype.bsky.social
Karyn Meltz Murphy
@karynotype.bsky.social
Come for the science. Stay for the snark.
Reposted by Karyn Meltz Murphy
📣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
October 6, 2025 at 3:24 PM
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
October 6, 2025 at 2:47 PM
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!
August 21, 2025 at 3:22 PM
Reposted by Karyn Meltz Murphy
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."
June 25, 2025 at 1:04 PM
Reposted by Karyn Meltz Murphy
Lungfish xkcd.com/3064
March 17, 2025 at 4:53 PM
Did people here completely delete their twittr/x profile? I haven’t been on in ages but wondering if I should wipe it clean…
February 28, 2025 at 3:00 PM
Reposted by Karyn Meltz Murphy
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
2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING!
YouTube video by Anti Trump
www.youtube.com
February 23, 2025 at 10:14 PM
The #agbt25 FOMO is real
February 23, 2025 at 10:30 PM
Can we at least be home by 9pm?
I gotta say: this recognition that I need to be in community to survive this shit is AT COMPLETE ODDS with my introversion and misanthropy😫
February 14, 2025 at 12:47 AM
Hello world
November 20, 2024 at 10:07 PM