#ASHG25 was great! Looking forward already to #ASHG26 in Montreal! And looking forward to a future where we can see all the awesomeness of genetics and genomics reach all people, countries & communities every day from timely diagnoses to precision health @geneticssociety.bsky.social ♥️🧬

- The technology gap is worringly widening more & faster, from access to genomic sequencing, other omics technologies, and AI/digital tech. While we're seeing huge advances & benefits from genomics in wealthy countries, these are not benefitting patients & people equally. #ASHG25

- Great progress in understanding disease and disease mechanisms. Glad to see more balance in the program between rare diseases, mechanisms, complex diseases, and biobank/large-scale projects and disease prediction. Not inundated with GWAS and PRS talks this year! #ASHG25 🧵

Finishing this interesting final session of #ASHG25 with a panel discussion on the better use of artificial intelligence in genetics and genomics.

Last talk #ASHG25 by Matthew Might from the University of Alabama on How AI is transforming genome-guided medicine through a personal and professional experience after trying to find the cause and later a therapy for his son Bertrand, the first patient with #NGLY1 deficiency.

Next #ASHG25 speaker is Harry Farmer from @adalovelaceinst.bsky.social talking about The Politics or Prediction: exploring the societal, economic and ethical challenges of genomic health prediction.

Next, Euan Ashley from @Stanford talking about the impact of Artificial Intelligence. AI good/better than humans in some things but not everything. How to leverage AI for biomedical research and understand diseases, identify genes and predict outcomes #ASHG25

Starting with Olga Troyanskaya talking about AI Frameworks for whole genome functional annotation: from mechanisms to disease outcomes, focusing specifically on modeling the effects of autism associated variants in brain development and cell-specific expression #ASHG25

Last presentation of the session by Kai-How Farh from @illumina presenting on PrimateAI performance at classifying likely pathogenic vs benign variants. Looked at UK biobank data for variants that may impact lifespan. Each person carries 3-4 lifespan reducing variants #ASHG25

Jacqueline Dron presenting work on the genetic architecture of blood lipids for 2.45M individuals from diverse populations part of the Global Lipids Genetics Consortium. 270 novel loci assoc w/LDL cholesterol leveraging multi-ancestry metaGWAS plus additional GWIS hits #ASHG25

Peter Fiorica from the University of Buffalo presenting analysis of Local ancestry specific genetic architecture of breast cancer risk in 40k women from the African Ancestry Breast Cancer Genetics (AABCG) Consortium identified 13 SNPs in regions not previously associated w/ breast cancer #ASHG25

Next talk by Julian Lucas from Karen Miga's lab presenting on Accurate representation of globally diverse human haplotypes as part of the Human Pangenome Reference Consortium release 2 encompassing 230 samples with >6k T2T highly continuous chromosomes and error rate ~1 per 500k bases #ASHG25

LB identified 160,630 CDHs in the HPRC genomes which are enriched for SVs and may disrupt haplotypes potentially affecting gene expression and 3D genome architecture #ASHG25

Carlos Fernando Buen Abad Najar from the University of Chicago describes Torino, an unsupervised learning algorithm to analyze RNAseq data for the identification of mRNA isoforms using Poisson matrix factorization enabling genome-wide novel isoform discovery #ASHG25

Also receiving awards for their publications in @geneticssociety.bsky.social journals @ajhgnews.bsky.social and @hggadvances.bsky.social Maria Palafox, Yu Fu, Hye In Kim and Maria Gutierrez-Arcelus!