Claudia Gonzaga-Jauregui

Happy Halloween and Día de Muertos season from the Mendelian Genomics and Precision Health Lab @liigh-unam.bsky.social !!!

Deeply honored and grateful to have received the Reconocimiento Distinción Universidad Nacional para Jóvenes Académicos (RDUNJA) for research in the Natural Sciences 2025. This prestigious distinction is awarded to young investigators by UNAM, the National Autonomous University of Mexico. #Genomics

What makes PhD students happy? Good supervision Supervisors who invest in positive mentoring relationships with their PhD candidates also reap the benefits for their own research.

"...researchers who invest time in their students tend to lead more-productive, more-collaborative groups and attract stronger future students than those who do not." "Time spent with the next generation of scientists is an investment."
www.nature.com/articles/d41...

#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 🧵

And it's a wrap for #ASHG25!!! 🤩
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵

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 Plenary Session of #ASHG25 starting with the Distinguished Speaker Symposium on the topic of AI-Powered Genomics: Transforming Data into Insights.

What we discovered during the #ASHG25 Featured Plenary Abstract Session III—the complexity of the human genome can be studied through many innovative approaches/tools, and there’s a need for more globally representative genomes and cohorts. #ASHG

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

Starting the Third Plenary session #ASHG25 with Lingbin Ni from the Eichler Lab at University of Washington presenting Haplotype-resolved chromatin differences and structural variation using 177 Human Pangenome Reference Consortium samples finding haplotype-specific HiC contacts.

Erica Vaccari presenting results from work on analyzing reimbursement of germline genetic testing and how it is impacted by socioeconomic characteristics and type of insurance. Hispanics and people with Medicaid were less likely to be reimbursed for genetic testing #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

Second Featured Abstract Plenary Session of #ASHG25 starting with Antonio Adamo presenting on studies in his lab of supernumerario X chromosome aneuploidy using brain organoids showing that increased X chromosome dosage leads to neuronal impairment and electrophysiological abnormalities.

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!

ASHG Plenary Session starting with the awards ceremony honoring Eric Green with the Leadership Award of @geneticssociety.bsky.social reflecting on his career in human genetics & genomics leading the Human Genome Project & the NHGRI and the leadership principles he has learned throughout #ASHG25

Francesca Luca from the University of Chicago talking about the impact of environmental contexts in genetic susceptibility to diseases through eQTL and allele-specific studies. Also use context dependent functional annotations for gene fine mapping in complex traits
#ASHG25

Loic Yengo from University of Queensland discussing the importance of Multi-ancestry GWAS to identify ancestry-specific associations and improve fine-mapping of association signals. New methods being developed but still challenges due to underrepresentation of non-European populations #ASHG25

David Reich from Harvard Medical School talking about selection in the human genome. Improvements in data quality and analyses found 400+ signals of selection sweeps. Acceleration in the last 5k years for some immune and metabolic traits. #ASHG25

Janet Kelso from Max Planck Institute for Evolutionary Anthropology talking about archaic Neanderthal and Denisovan DNA introgression in modern humans, especially influencing traits important for environmental adaptation or interaction #ASHG25

Now the Presidential Symposium starting with introduction by @geneticssociety.bsky.social President Sarah Tishkoff and four excellent speakers that will talk about "Unraveling the Genetic Foundations of Human Disease: Insights from the Past, Present, and Future" #ASHG25