Jack Kosmicki
@jakphdStatistical geneticist @ Regeneron | PhD @broadinstitute & @harvardmed | tweets are my own | he/him/his
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Maybe everyone already knew about this, but the @AllofUsResearch results browser is up so you can look up your favorite genetic associations (I assume this is the browser @konradjk presented at #ASHG24 that is now ready?). allbyall.researchallofus.org
Wow, the exodus to bsky is really something. I am now at @jakphd.bsky.social
Genetic & phenotypic impact of ancient hunter-gatherer "Jomon" on modern Japanese🧬. Geographical diversity of Jomon genome proportion across Japanese islands🗾🏝️& link with obesity⚖️. Work with @go_kenbo & @shige_nakagome using BBJ !! Now @NatureComms ㊗️ nature.com/articles/s4146…
Excited to share our preprint, describing a method for heritability partitioning with GWAS sumstats that significantly improves upon S-LDSC Led by the fantastic Hui Li, and co-supervised by @XihongLin #ASHG24 poster 4089F medrxiv.org/content/10.110…
FinnGen continues to be one of the best genetic datasets in the world with some of the best phenotype data, and now they've reached their goal of 500k (same size as UK BioBank)! Truly, the gift that keeps on giving
Last autumn FinnGen hit its target of sampling close to 10% of the Finnish population with more than 500,000 participants. We are happy to announce that the results based on the full cohort are now publicly available for the whole research community: finngen.fi/en/results-bas…
REGENIE v4.0 is live!🎉 You can now analyze time-to-event phenotypes, leveraging power gains with case-control phenotypes where time-to-event information is available. github.com/rgcgithub/rege…
Nate Silver might get downgraded to Nate Bronze
Vote is cast. Nothing to do but wait. On to Denver for #ASHG24 … catching up with new science and old friends. I’m #hiring. Keen to make new friends interested in relocating to the NY area to develop tools and methods to help human genetics scale. DM me. 1/3
This work was driven by brilliant PhD student @htanudisastro, as a close collaboration with @drjosephpowell’s team, especially postdoc @AnnaSECuomo Both Anna and Hope will be presenting at #ASHG2024 on Wednesday - we’d welcome comments as we prep the final dataset of over 2K!
Last autumn FinnGen hit its target of sampling close to 10% of the Finnish population with more than 500,000 participants. We are happy to announce that the results based on the full cohort are now publicly available for the whole research community: finngen.fi/en/results-bas…
I'm excited to announce that we have generated local ancestry informed allele frequencies for the inferred African/African American genetic ancestry group of gnomAD v4.0, live now on the browser! gnomad.broadinstitute.org/news/2024-10-l…
Yesterday our paper on the genomics of the extinct aurochs was published in @Nature! I’m so happy to see this work finally released to the wild (ahem…). nature.com/articles/s4158… 🧵 Please follow along this thread of the main findings! 🐄🧬🦴
Next week is the Super Bowl of Genetics 🧬 🏈 😁 @GeneticsSociety annual meeting! We are hosting a get-together celebrating 150+ episodes of The Genetics Podcast. 🎉 Join us: lu.ma/geneticspodASHG Look forward to catching up, DM me if you want to meet!
🧬Useful GWAS resource from 260K individuals in Biobank Japan🇯🇵for 63 quantitative traits incl.: 👉hematology & blood cell counts 👉serum biochemistry & electrolytes 👉heart echo 👉blood pressure metrics 📊Summ stats: jenger.riken.jp/en/result 📜Paper: nature.com/articles/s4158…
Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease nature.com/articles/s4158…
This guy isn't slowing down... Biotech veteran John Maraganore raises $135 million for his ‘next-generation RNAi’ startup statnews.com/2024/10/08/bio… via @ADeAngelis_bio
Happy to see the Sparse Burden Association Test (SBAT) published in @AJHGNews! Great teamwork with @joellembatchou, @marchini, and colleagues at the RGC. It feels special, as it was my very first project @RegeneronDNA
We’re excited to introduce a method for genetic testing in exome-wide association studies: the Sparse Burden Association Test (SBAT). This innovative gene-based approach combines information across different burden tests to boost power and select the most important tests.
We’re excited to introduce a method for genetic testing in exome-wide association studies: the Sparse Burden Association Test (SBAT). This innovative gene-based approach combines information across different burden tests to boost power and select the most important tests.
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