Karyn Meltz Murphy
@karynotype.bsky.social
Come for the science. Stay for the snark.
I sipped a manhattan while making miso black cod.
November 3, 2025 at 1:01 AM
I sipped a manhattan while making miso black cod.
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...
Full text here: www.sciencedirect.com/science/arti...
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…
www.sciencedirect.com
October 6, 2025 at 3:09 PM
Full text here: www.sciencedirect.com/science/arti...
I first read that as “grift link”
May 25, 2025 at 3:08 PM
I first read that as “grift link”
Ugh I’m sorry to hear this
May 14, 2025 at 1:26 AM
Ugh I’m sorry to hear this
She’s my daughter’s cat. My daughter’s name is Zoe 😊
April 29, 2025 at 12:26 AM
She’s my daughter’s cat. My daughter’s name is Zoe 😊
This is Mimi—probably their cousin
April 29, 2025 at 12:13 AM
This is Mimi—probably their cousin
New pope. Who dis?
April 22, 2025 at 1:17 PM
New pope. Who dis?
I read this in David Attenborough’s voice in my head
April 19, 2025 at 10:43 PM
I read this in David Attenborough’s voice in my head
Pie and pop? Pie and pop!
April 1, 2025 at 12:06 PM
Pie and pop? Pie and pop!
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…
March 24, 2025 at 1:49 PM
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…
Good idea about setting to private
February 28, 2025 at 4:22 PM
Good idea about setting to private
Mostly genes but I was having issues with pubmed yesterday. It seems to be resolved now
February 18, 2025 at 6:38 PM
Mostly genes but I was having issues with pubmed yesterday. It seems to be resolved now
Yes I’m having issues with anything on ncbi 😞
February 18, 2025 at 6:10 PM
Yes I’m having issues with anything on ncbi 😞