Karyn Meltz Murphy
@karynotype.bsky.social
📤 154
📥 534
📝 24
Come for the science. Stay for the snark.
reposted by
Karyn Meltz Murphy
The American Journal of Human Genetics
about 1 month ago
Read more about this exciting work!
www.genomeweb.com/sequencing/g...
loading . . .
'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
0
1
1
reposted by
Karyn Meltz Murphy
The American Journal of Human Genetics
about 1 month ago
📣New today! 📄A scalable approach for genomic-first rare disorder detection in a healthcare-based population 🧑🤝🧑
@karynotype.bsky.social
&
@geisinger.bsky.social
colleagues
loading . . .
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
1
6
1
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...
loading . . .
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
about 1 month ago
1
14
3
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!
3 months ago
0
1
0
reposted by
Karyn Meltz Murphy
5 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."
644
28642
4669
reposted by
Karyn Meltz Murphy
Randall Munroe
8 months ago
Lungfish
xkcd.com/3064
97
11971
1404
Did people here completely delete their twittr/x profile? I haven’t been on in ages but wondering if I should wipe it clean…
9 months ago
1
1
0
reposted by
Karyn Meltz Murphy
Kendra "Gloom is My Beat" Pierre-Louis
9 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
loading . . .
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
83
6188
2456
The
#agbt25
FOMO is real
9 months ago
0
0
0
Can we at least be home by 9pm?
add a skeleton here at some point
9 months ago
1
8
1
Hello world
12 months ago
4
9
0
you reached the end!!
feeds!
log in