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Back at ASHG and got to hear Drs Sarah Tishoff, Francis Collins, the new GLP1 MR study, the GIANT study on hwr, Dr C. Mason's lab on space flight 'omics, and it's just day one! Excited for the rest of the week. My poster on fine mapping/eQTLs in AD is today, if you want to check it out!
I was under the impression that imputation with under 20 samples is technically problematic. In situations like this I have added 1kg samples.
Research has been really busy, but today research came out in Genome Biology that I've been waiting for!
Proud to be a main analyst (yes there are a lot of us) in this largest multi ethnic study of Alzheimers disease via the ADGC.
Congrats to all on publication day!
doi.org/10.1186/s130...
Really grateful to be here at #ARVO2025.
Also honored to be giving a talk on Tuesday on a TWAS + monocytes + the pathogenesis of AMD!
Come find out why gene expression matters, 1:45pm, Ballroom E, Tues.
Thank you to @brightfocus.bsky.social
for the opportunity!
Composite shows four Hubble images in quarters. At top left is a crisp view of Mars in shades of orange, blues, and browns. At top right is planetary nebula NGC 2899, which is shaped like a single macaroni noodle, with its central torus appearing semi-transparent and blue and green, and its top and bottom edges in orange. At bottom left is a tiny portion of the Rosette Nebula. Very dark gray material shaped like a triangle takes up the center. At bottom right is barred spiral galaxy NGC 5335 with a milky yellow center that forms a bar surrounded by multiple blue star-filled spiral arms that wrap up counterclockwise.
Hubble has spent 35 years in orbit! 🥳 Celebrate with an array of compelling images recently taken by Hubble: Mars, dramatic views of stellar birth and death, and a magnificent spiral galaxy: bit.ly/4jjsAs7 🔭 🧪
It's 2005, also with the Haines et al 2005 simultaneous publication also on the same CFH and AMD.
Key reads from last week on human genetics, multiomics, and precision medicine 🧵
1⃣New e/sQTL resource from TOPMed
In 14,324 whole blood & tissue samples the study detects cis- and trans-e/sQTLs and colocalizes them with 10,000 GWAS signals for 164 traits.
🔗 www.medrxiv.org/content/10.1...
📢New Yorkers! We're meeting for the second session of the 'Postdoc Night Science NYC' club on January 30th 5-7pm. This time we'll be at NYU (Washington Square campus), with the topic of 'A hypothesis is a liability'. Space is limited so please register: docs.google.com/forms/d/1Shc...
"Roman writers found the relative empowerment of Celtic women remarkable." Wonderful start to a new #ancientDNA paper out today about the communities of Iron Age Britain in an increasingly connected and mobile world. www.nature.com/articles/s41...
A really interesting response to the paper in Nature.
This get a repost because Prof Carmi's response made me laugh.
Our mentor Casey Brown, apart from being an extraordinary scientist, was a brilliant teacher who loved everything genetics. In his honor, some of the world's leading experts came together to create the 'Casey Brown Lecture Series' on human genetics 1/ shorturl.at/eCm7S
Reflecting on another Earth year – from Mars!
From saying goodbye to my pal Ingenuity to reaching the rim of Jezero Crater after a long, treacherous climb... Here are some of my biggest moments of 2024. 🧵
I would especially like to thank my funder BrightFocus, for without them, this dream wouldn't have happened. Bright Focus has let me create something huge that will be the new IAMDGC flagship and I couldn't be more grateful. @dianebovenkamp.bsky.social
The first IAMDGC paper has been cited>1,500 times, but only includes Europeans. This includes participants from all populations, and is completely redone via TOPMed.
Goal: a larger imputed panel and both sexes.
There is new fine mapping, how main loci are different amongst populations🧵
I cannot thank my awesome cofirst author Mathias enough, as well as all of the amazing co-authors who got this project to fruition. I dreamt about this since 2018 and am so glad to see it come true. I also want to thank all the IAMDGC, for without them this would not exist. 🧵
The #1 question I got at ASHG was where is the IAMDGC 2.0: it's under review, but preprint is finally out!
A brand new diverse ancestry analysis, two new loci, and a full TOPMed imputed dataset. I am equal first author and thrilled to see it live! 🧵
www.medrxiv.org/content/10.1...
