Sharon Plon

We demonstrated that testing was feasible and about 25% of recurrent tumors had variants in cancer predisposition genes of which 20% were germline. Rapid reflex germline testing of tumor results is warranted.

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial - PubMed Coordinated germline and tumor panel testing was feasible and revealed P/LP CPG variants in 6.3% of the Pediatric MATCH cohort. Tumor variant fraction, germline association of CPG with tumor type, and adult-oriented guidelines were not predictive of germline status, emphasizing the need for systemat …

Happy to report that the results of germline testing as part of the National Cancer Institute/Children’s Oncology Group MATCH precision oncology trial was published. pubmed.ncbi.nlm.nih.gov/41166674/

Appreciate it.

I’m scheduled for a late November study section but they haven’t given us our review assignments. Anyone know the minimum time to review is required.

Totally agree on how hard it is to get reviewers for many journals.

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

First Plenary Abstract Session of #ASHG25 starting with Srikar Gopinath from Yale describing their study characterizing >1M variants in the 5' UTR regions to assess their functional effects on gene translation and develop a prediction algorithm to evaluate non-coding UTR variation.

Congratulations to Andy Rivera @poseypod.bsky.social lab @bcmhouston.bsky.social grad student for putting together a standing room only session at #ASHG25

Arrived at 11:00pm

Will you be at the Baylor party?

Nicky - on an 8 hour delayed flight but happy to talk at ASHG about new guidelines.

Interested in this point. If it does a task the suggested prompts are often - make it better or change tone. That suggests to the user that it can evaluate its own response. Is that not true?

I’m a child of a German Jewish family that escaped in 1939 - growing up in Philadelphia I remember reading many times over a book about how Denmark saved their Jewish population in boats to Sweden. It was very important to have that one story of a country which didn’t allow the massacre to occur.

Is there a way to download this thread (like in Twitter) as I would love to she with some AI believer colleagues.

Excited to have an entire session on different aspects of germline and somatic cancer curation in ClinGen - clinicalgenome.org today at the Cancer Genomics Consortium annual meeting in Houston. #CGCAnnual2025

Agree - I was thinking that is a lot of walking

‘We finally have a name’: At long last, Manhattan family gets an answer to daughter's rare genetic condition As with so many calls previously about 9-year-old Delilah, Kelli Stanley braced for more uncertainty. But this time was different. This time, they finally had a name.

@nickywhiffin.bsky.social An article I thought you would appreciate. www.bozemandailychronicle.com/news/renu-sy...

“The cause defended at Dayton is a continuing one that has existed throughout man’s brief history and will continue as long as man is here,” Scopes wrote in Center of the Storm, his 1967 memoir. “It is the cause of freedom, for which man must do what he can.”

Appreciated the long thread. It seems so dependent on having a health system ready to use the data in a rational way. Likely much more true in the UK than US where the baby with genome data would then wind up in our chaotic healthcare system (or potentially uninsured).

In US we have had students work with all of us data.

The policy includes submitting to Pubmed central without an embargo. You are not required to pay for Open Access.

This is actually a topic that was talked about quite a bit in the good days of science Twitter. Many people noted that if a reviewer or interviewer sees the publication and then sees your CV they may not be accustomed to the change in order.

Funny reversal of technology. I have received the print version of @nejm.org for >30 years. I get the hard copy at my house. I wanted to look at videos associated with article in June 26 issue I was reading today on Pompe disease. I can read the print version - but the digital issue is not online!!

It will be an individual decision. As a type 1 diabetic 25 years and a physician - dying from overwhelming infection worries me. Also we have no idea how long the cells will last - 10 people lasted >1 yr. Not sure I would want to face going back when they fail.

Great step forward but requires long term immunosuppression. Very difficult trade-off.

Atul Butte died yesterday.
The world lost a giant.
A big bear of a man.
With a huge smile.
With love for everyone.
With energy that could power a room.
I loved everything about Atul.
I loved how he was always happy.
I loved how excited he was about science and helping people.

So sorry to hear that. Is there an announcement?

In a modest bit of good news, NIH has released new NOFOs for all the NRSAs (and also Pioneer and New Innovator awards) grants.nih.gov/funding/nih-...

Durbin to Bhattacharya: "I can't understand it. I disagree w/ this admin on so many things. But this is the one that really gets to me personally. To think this nation would walk away from medical research. For God's sake...cancer, your budget requests a 38% cut to the National Cancer Institute"

That’s awesome! ….but, it’s also ~30 R01s

The truth is that the US stood alone in large scale science funding— and reaped a lot of benefit for being -the- place where new things get discovered

Realigning is going to be tough on everyone