Out now Nature Medicine results of our #AcuteCare Australian Genomics study 🇦🇺 Huge national effort: 290 critically ill 👶 2.9 days to WGS result ⏱️ RNAseq+proteomics+extra analysis 🔍 👉54% diagnosed, major impacts on care 🏥 rdcu.be/dd4M6 🧵

In this paper (free version here authors.elsevier.com/a/1hsua3vlFV0S…) 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

Big news! Congrats to the Broad team for this massive undertaking and accomplishment!

Very big day for the All of Us team!

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! npr.org/2024/05/17/125…

In a development I was not expecting, THE SLIP is a national bestseller, coming in at 89 on the USA TODAY 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 Strand Book Store tonight at 7. 🙏🥊