Karyn Meltz Murphy
@karynotype.bsky.social
Come for the science. Stay for the snark.
Reposted by Karyn Meltz Murphy
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
October 6, 2025 at 8:30 PM
Read more about this exciting work! www.genomeweb.com/sequencing/g...
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
🧑🤝🧑 @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
📣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
🧑🤝🧑 @karynotype.bsky.social & @geisinger.bsky.social colleagues
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...
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
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...
Also presenting next week at #ashg25 #ashg2025
www.cell.com/ajhg/abstrac...
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
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!
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
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."
Reposted by Karyn Meltz Murphy
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
Did people here completely delete their twittr/x profile? I haven’t been on in ages but wondering if I should wipe it clean…
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
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
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
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
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
Can we at least be home by 9pm?