Karyn Meltz Murphy
@karynotype.bsky.social
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Come for the science. Stay for the snark.
reposted by
Karyn Meltz Murphy
The American Journal of Human Genetics
3 months ago
Read more about this exciting work!
www.genomeweb.com/sequencing/g...
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'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.
https://www.genomeweb.com/sequencing/genomic-first-search-geisinger-mycode-participants-reveals-undetected-rare-disease
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reposted by
Karyn Meltz Murphy
The American Journal of Human Genetics
3 months ago
📣New today! 📄A scalable approach for genomic-first rare disorder detection in a healthcare-based population 🧑🤝🧑
@karynotype.bsky.social
&
@geisinger.bsky.social
colleagues
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00366-0
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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...
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00366-0
3 months ago
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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!
4 months ago
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reposted by
Karyn Meltz Murphy
6 months ago
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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reposted by
Karyn Meltz Murphy
Randall Munroe
10 months ago
Lungfish
xkcd.com/3064
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Did people here completely delete their twittr/x profile? I haven’t been on in ages but wondering if I should wipe it clean…
10 months ago
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reposted by
Karyn Meltz Murphy
Kendra "Gloom is My Beat" Pierre-Louis
10 months ago
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
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2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING!
YouTube video by Anti Trump
https://www.youtube.com/watch?v=IQ1J0HCZS74
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The
#agbt25
FOMO is real
10 months ago
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Can we at least be home by 9pm?
add a skeleton here at some point
11 months ago
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Hello world
about 1 year ago
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you reached the end!!
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