#eshg2023
Slowly watching the talks from #eshg2023 and so far my personal favorite was from @CAuwerx titled "Copy-number variants as modulators of common disease susceptibility"... one of the best CNV talks I have ever seen. Great work
January 21, 2025 at 1:27 PM
Thank you @eshgsociety for a brilliant #ESHG2023 in sunny Glasgow ☀️🏴󠁧󠁢󠁳󠁣󠁴󠁿

Wonderful to catch up with so many friends and colleagues 🤗 Leaving excited and inspired by the science! 🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬
December 20, 2024 at 1:15 PM
Back in M1 #ESHG2023: @MatildaHaas @AusGenomics describing our experience with dynamic #consent. CTRL online platform is co-designed and now evaluated in a real-world cohort 🇦🇺
December 20, 2024 at 1:15 PM
On now M1 #ESHG2023 health economics and #genomics/hashtag/genomics" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#genomics starting with @IliasGoranitis showcasing all the work we have done @AusGenomics to build #evidence for the value of #genomics in healthcare
December 20, 2024 at 1:20 PM
And finally in this session #ESHG2023 @JorisVermeesch: characterization of the 22q11.2 LCRs. Are they linked to different clinical features?
December 20, 2024 at 1:25 PM
And addressing the challenge of generating diverse reference Long-read #data including from #Indigenous communities #ESHG2023 🇦🇺
December 20, 2024 at 1:35 PM
On now in Clyde #ESHG2023 Long reads for solving old problems starting with @MinaRyten and long-read RNAseq!
December 20, 2024 at 1:30 PM
On now Hall 5 #ESHG2023 @aphillippy: T2T genomes to address completeness and representation biases and improve analysis
December 20, 2024 at 1:35 PM
Exciting to hear about the development of a pharmacogenomic service @NHSgms @John_H_McD #eshg2023 exploring a pre-emptive model. Lots to think about: performance, bioinformatics, health economics and #implementation and most of all clinically relevant format and timeframes! 💊🧬
December 20, 2024 at 1:35 PM