In a development I was not expecting, THE SLIP is a national bestseller, coming in at 89 on the @USATODAY list. A huge and heartfelt thank you to everyone who is buying and reading the book! If you’re in NYC hope you’ll join us at @strandbookstore tonight at 7. 🙏🥊
Some non-genetics personal news: my hard-hitting interview about attending last year's Kyle Fest in Kyle, TX aired on NPR's All Things Considered on Friday!
https://t.co/4Piuv9F1GB
Today we announce the submission to #ClinVar of >32,000 variants evaluated for the return of hereditary disease risk in the @AllofUsResearch cohort. Its wonderful to return value to those who contribute their data to biomedical research! More details here: https://t.co/1DMbkjfhbh
The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry https://t.co/YKXIFlZwSi #ASHG23 (1/11)
In this paper (free version here https://t.co/8gYNcaRxmu) we looked at 1.5 million genetic tests on symptomatic people: Over 30% were inconclusive due to VUS. But genomic tests had a lower VUS rate than panel tests because we only put the stronger evidence VUS on reports! 1/3
Out now @NatureMedicine results of our #AcuteCare@AusGenomics study 🇦🇺 Huge national effort:
290 critically ill 👶
2.9 days to WGS result ⏱️
RNAseq+proteomics+extra analysis 🔍
👉54% diagnosed, major impacts on care 🏥
https://t.co/B7dScpCR7a 🧵
But I knew one thing for sure, the name holds no special power. The world of Kyles is wide, unique, strange, and wonderful. So, what’s in a name? I guess all our parents thought it was a “nice” name for their kid. That’s good enough for me.
I'm Kyle, and I went to the Gathering of the Kyles in Kyle, TX to break a Guinness World Record and find out what’s in a name. If you’ve read The Bard, you might recall that Juliet asks “What's in a name? That which we call a rose, by any other word would smell as sweet.” 1/19
With no plan or info, we dissolved into civilian society with our free, sweaty, shirts not smelling sweet as roses. As I left, another bit of disappointing news came over the PA: we had a paltry 1,430 Kyles. Hundreds had left due to poor organization.