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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 17h

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

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 18h

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

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 18h

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

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 18h

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

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 18h

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

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 18h

Always fun to catch up with #LCG_UNAM alumni and see where life has taken each of us and what exciting science everyone is doing! Generations 1, 2, 5, 12 & 13 present at #ASHG25 #ASHG2025
@lcgej.bsky.social

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 19h

Starting the Plenary Session of today with the awards ceremony honoring Carole Ober with the Mentorship Award and Hal Dietz with the Lifetime Achievement Award of @geneticssociety.bsky.social #ASHG25 #ASHG2025

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Reposted by Claudia Gonzaga-Jauregui

Chris Gunter 🧬 @girlscientist.bsky.social · 1d

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Final talk of this first Plenary Session is Ivy Bethea presenting on addressing the shortage and need of clinical genetics experts through large language models. Evaluated whether LLMs can perform similarly to geneticists. LLMs performed comparable or better overall #ASHG25

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Next, Emma Wilson from UNC talking about identifying candidate genes and potential drug targets for central obesity through a multi-ancestry meta GWAS of data from the GIANT Consortium. Prioritized 1,185 genes some of which are drug targets and could be therapeutic targets #ASHG25

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Next, JangKeun Kim from Weill Cornell Medicine presenting about the Space Omics and Medical Atlas (SOMA) project to profile human body adaptation to space travel. Collecting bio specimens from astronauts for multi-omics analyses #ASHG25

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

First Plenary Abstract Session of #ASHG25 starting with Srikar Gopinath from Yale describing their study characterizing >1M variants in the 5' UTR regions to assess their functional effects on gene translation and develop a prediction algorithm to evaluate non-coding UTR variation.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Following a Special Recognition by @geneticssociety.bsky.social to Francis Collins for his contributions to human genetics and genomics. This is Dr. Collins's 48th #ASHG meeting. It is critical to continue interrogating variation in diverse populations! #ASHG25 #ASHG2025

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 1d

Full room as we kick off #ASHG25 with welcoming remarks by @geneticssociety.bsky.social president Sarah Tishkoff talking about the need to make human genetics & genomics to populations everywhere. "We are stronger when we stand together" #ASHG2025

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 2d

Absolutely! Wouldn't miss it for anything! Will take the opportunity to congratulate you in person there!

Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 2d

Arrived in Boston for the genetics event of the year #ASHG2025! Brushing up on my genetics at the Museum of Science in preparation for a week full of genetics & genomics excitement! @geneticssociety.bsky.social

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 6d

Happy to be this weekend at the International Porphyrias Symposium 2025 as a Keynote speaker talking about our efforts to improve awareness and molecular diagnostics of #RareDiseases in Latin America and the Caribbean through the #CEPCAL collaborative.

Reposted by Claudia Gonzaga-Jauregui

lcgej.bsky.social @lcgej.bsky.social · Aug 11

New semester, new bluesky account!
We start this new semester at UNAM welcoming new and current students of the Genomic Sciences Undergraduate Program at UNAM in Juriquilla!

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Reposted by Claudia Gonzaga-Jauregui

Daniela Robles-Espinoza @daniela-oaks.bsky.social · May 29

The last talk of this block is being given by Valeria G. Vela, also working with @cgonzagaj.bsky.social, and she is talking about hemoglobinopathies in the Mexican population #LCGUNAM @liigh-unam.bsky.social

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Reposted by Claudia Gonzaga-Jauregui

Daniela Robles-Espinoza @daniela-oaks.bsky.social · May 29

We are now listening from @arianasilva.bsky.social, who is working with @cgonzagaj.bsky.social, talk about SMARCA5 variants and their association with a novel neurodevelopmental disorder #LCGUNAM @liigh-unam.bsky.social

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 29

#ProudPI today after students Valeria Vela and Ariana Silva of our Mendelian Genomics & Precision Health Laboratory @liigh-unam.bsky.social presented the projects that they'll be working on during their 4th year of research in the Genomic Sciences Undergraduate Program!!!

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 24

Wow! Such sad intervention from Mexico at this year's World Health Assembly using this global forum for health to advertise IMSS Bienestar instead of actually committing to improving healthcare in Mexico & supporting important initiatives like the #RareDiseases #Resolution4Rare

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · May 22

Excited to be attending this week the 2nd Spanish Congress of Genomic Medicine at Universidad Nebrija in Madrid, Spain! I'll be participating in a session and panel about the advances, barriers and challenges of implementing genomics for Precision Medicine in Latin America.

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Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · Apr 16

Huge thanks to everyone that contributed to this important discovery, especially Bradley Miller and Sander Markx @columbiauniversity.bsky.social, Karla Brigatti, Erik Puffenberger, and Kevin Strauss at the Clinic for Special Children, @crisvanhout.bsky.social, and many colleagues at Regeneron!