Karyn Meltz Murphy's Avatar

Karyn Meltz Murphy

@karynotype.bsky.social

Come for the science. Stay for the snark.

154 Followers  |  534 Following  |  24 Posts  |  Joined: 05.10.2023  |  2.0575

Latest posts by karynotype.bsky.social on Bluesky

Post image

I sipped a manhattan while making miso black cod.

03.11.2025 01:01 β€” πŸ‘ 8    πŸ” 2    πŸ’¬ 2    πŸ“Œ 0
'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.

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

06.10.2025 20:30 β€” πŸ‘ 1    πŸ” 1    πŸ’¬ 0    πŸ“Œ 0
Preview
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...

πŸ“£New today!
πŸ“„A scalable approach for genomic-first rare disorder detection in a healthcare-based population
πŸ§‘β€πŸ€β€πŸ§‘ @karynotype.bsky.social & @geisinger.bsky.social colleagues

06.10.2025 15:24 β€” πŸ‘ 6    πŸ” 1    πŸ’¬ 1    πŸ“Œ 0
Preview
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…

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

06.10.2025 15:09 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
Preview
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...

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...

06.10.2025 14:47 β€” πŸ‘ 14    πŸ” 3    πŸ’¬ 1    πŸ“Œ 0

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!

21.08.2025 15:22 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
Post image

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."

25.06.2025 13:04 β€” πŸ‘ 28642    πŸ” 4251    πŸ’¬ 644    πŸ“Œ 418

I first read that as β€œgrift link”

25.05.2025 15:08 β€” πŸ‘ 11    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Ugh I’m sorry to hear this

14.05.2025 01:26 β€” πŸ‘ 4    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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

29.04.2025 00:26 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
Post image

This is Mimiβ€”probably their cousin

29.04.2025 00:13 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

New pope. Who dis?

22.04.2025 13:17 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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

19.04.2025 22:43 β€” πŸ‘ 6    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

Right? Lol

01.04.2025 16:24 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Pie and pop? Pie and pop!

01.04.2025 12:06 β€” πŸ‘ 6    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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…

24.03.2025 13:49 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Sigh

18.03.2025 12:36 β€” πŸ‘ 2    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
Post image

Lungfish xkcd.com/3064

17.03.2025 16:53 β€” πŸ‘ 11971    πŸ” 1316    πŸ’¬ 97    πŸ“Œ 88

Good idea about setting to private

28.02.2025 16:22 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

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

28.02.2025 15:00 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING!
YouTube video by Anti Trump 2025 Governors Ball US Army - "Do You Hear the People Sing" BRILLIANT TRUMP TROLLING!

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

23.02.2025 22:14 β€” πŸ‘ 6188    πŸ” 1846    πŸ’¬ 83    πŸ“Œ 610

The #agbt25 FOMO is real

23.02.2025 22:30 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Mostly genes but I was having issues with pubmed yesterday. It seems to be resolved now

18.02.2025 18:38 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Yes I’m having issues with anything on ncbi 😞

18.02.2025 18:10 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

Can we at least be home by 9pm?

14.02.2025 00:46 β€” πŸ‘ 8    πŸ” 1    πŸ’¬ 1    πŸ“Œ 0

That’s a lie! I power walk at best

04.12.2024 21:34 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

Do NOT add me to this list πŸ˜‚πŸ˜‚πŸ˜‚

Unless there’s tigers chasing us

02.12.2024 15:38 β€” πŸ‘ 1    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0

No need for apologies! Your kiddos are adorable!

22.11.2024 02:01 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

Hello world

20.11.2024 22:07 β€” πŸ‘ 9    πŸ” 0    πŸ’¬ 4    πŸ“Œ 0

@karynotype is following 20 prominent accounts