Adam Auton @adamauton
Human Genetics San Francisco, CA Joined October 2008-
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✨It’s National DNA Day!✨ 🧬 So grateful to work with an amazing team both here @23andMe and with our many innovative collaborators who are improving #health and preventing disease through #genetics and #genomicmedicine 🩺💚💞l Happy #DNADay!!
23andMe is hiring a Senior Bioinformatics Scientist! Please apply, or share with those that may be interested! Feel free to DM me for more details. 23andme.com/careers/jobs/7…
On April 5, 2021, three days after imaging the Apollo 11 site (x.com/JPMajor/status…) ISRO's Chandrayaan-2 captured the Apollo 12 LM "Intrepid" descent stage on camera from lunar orbit.
On April 5, 2021, three days after imaging the Apollo 11 site (x.com/JPMajor/status…) ISRO's Chandrayaan-2 captured the Apollo 12 LM "Intrepid" descent stage on camera from lunar orbit. https://t.co/Zj0XZnTZxu
Phenomenal news this morning. The Gottesman family generously funded me and my Center for Epigenomics at @EinsteinMed, I have appreciated their generosity for some time. But this is extraordinary. The impact will be immense. nytimes.com/2024/02/26/nyr…
Great news
Do you want otherwise well-adjusted bioinformaticians turning into unhinged supervillains? Because this is how you get it!
Do you want otherwise well-adjusted bioinformaticians turning into unhinged supervillains? Because this is how you get it!
PSA, since I've now seen problems arising from this: As of Sept 2023, GATK no longer makes missing genotypes explicit in VCFs (i.e. "./." as in the VCF spec). Missing genotypes are instead coded as "0/0" with a DP=0 format field. See attached for examples.
Great podcast talking about genetics in drug discovery, featuring Matt Nelson. “Scale matters in the genetics of complex disease. With very few exceptions, there is no alternative to scale.” podcasts.apple.com/us/podcast/the…
We have a new preprint out! This work shows the protective effects of LoFs in MAP3K15 in Type II diabetes risk (even on high risk PRS backgrounds), and importantly the "genetics driven recruitment" capabilities of the @23andMe database. medrxiv.org/content/10.110…
A new preprint from The 23andMe Research Team showcasing our capabilities in recall-by-genotype initiatives. Here we use recall-by-genotype to facilitate enhanced phenotyping in order to characterise a LoF variant in MAP3K15 associated with T2D medrxiv.org/content/10.110…
We are pleased to share our paper, new in @ScienceMagazine, on the scale, impact, and mechanisms underlying mutations arising in meiosis. Thanks to the team, collaborators, and colleagues! (1/2) science.org/doi/10.1126/sc…
Hey #ASHG23 attendees! If you are interested in talking about my study of 18-19th century African Americans from Catoctin Furnace or about ways to apply our new IBD approach to other historical datasets come find me at my poster (PB3122) on Friday from 3-5pm. @23andMeResearch
A preprint from our team showing that PRS can be used to identifying individuals with undiagnosed disease
A preprint from our team showing that PRS can be used to identifying individuals with undiagnosed disease
Our latest preprint - PRS can predict 1-yr incidence for 12 diseases in multiple ancestries (study of 8.5M individuals) medrxiv.org/content/10.110… PRS add information to conventional risk factors, and favorable lifestyle linked to lower risk in high-PRS group
Genetic Analysis and Natural History of Parkinson's Disease Due to the LRRK2 G2019S Variant medrxiv.org/cgi/content/sh… #medRxiv
In ~8M people, those in the top 10% PRS had higher 1-year disease incidence and earlier age of onset. But lifestyle factors markedly lowered disease incidence in those with high polygenic risk. There's a lot we can do to mitigate genetic disease risk. medrxiv.org/content/10.110…
Our paper, showing PRS are predictive of incident disease - not just classifiers of existing disease: medrxiv.org/content/10.110…
Prospective analysis of incident disease among individuals of diverse ancestries using genetic and conventional risk factors (From 23andMe) medrxiv.org/content/10.110…
Veera Rajagopal @doctorveera
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Fantastic CETG talk from @zl_fuller today on very neat work on LoF mutations at Columbia, and his recent work at 23andme!
Thanks to generous funding from the NIH/NHGRI, we will be sequencing the 4th generation of the CEPH/Utah pedigrees starting this year!
I thoroughly enjoyed my visit to @23andMe yesterday, talking genomic medicine with their talented researchers and clinicians, meeting their canine staff, hanging out with @taylorswift13(s), and seeing their very hip amphitheater.
This remains one of the best visualisations of human genetic variation I've seen, which helps illustrate how most variation is shared across groups rather than within groups. From the 1000 genomes project (2015): nature.com/articles/natur…
A figure in the All of Us paper was criticized on many fronts, including the use of a dimension reduction technique (UMAP). Some people concluded that UMAP is not appropriate for representing genetic ancestry. I disagree. @jkpritch @ras_nielsen @dgmacarthur 1/n
Bargain offer (a big one third off!) for my emperor book. And all signed in my very best handwriting! tinyurl.com/mv82nyhm
It was such an honor to be able to share these results with Agnes and her family today. I’m feeling very lucky to work at @23andMe, which makes it possible not only to do exciting research but also to return the results directly to the people they impact most. @23andMeResearch
Geneticist @EadaoinSays connected a little girl who died 200 years ago to a living relative using DNA. The results show how genetics can help break a "brick wall" slavery created for African Americans researching their ancestry. science.org/content/articl… @23andMe @NewsfromScience
I'm an occasional GATK dev, although I wasn't involved in this change (and don't really like it myself). I wanted to let people know that this post and its replies have sparked a lot of internal conversation about the change today.
PSA, since I've now seen problems arising from this: As of Sept 2023, GATK no longer makes missing genotypes explicit in VCFs (i.e. "./." as in the VCF spec). Missing genotypes are instead coded as "0/0" with a DP=0 format field. See attached for examples.
@nmancuso_ @sebatlab as though *this* is the thing limiting the performance of GATK...
The sound of an Aztec death whistle at night.
העצה הכי בסיסית היא לא להגיב ובטח לא להגיב מיד. פתחו על נרי חזית? תגיד "תודה על האינפורמציה. פתחנו בבדיקה פנימי ונעדכן בקרוב. מצער מאד ש BI משתמש באג'נדה פוליטית ללכת אחרי אישתי, שהיא אדם עצמאי בניגוד לתפיסה החשוכה של BI שרואה באישה חלק מהבעל". זהו. ואז תכה בזמן ובמקום המתאים.
I thought to do one more post about the @NeriOxman Business Insider story in the hopes of its rapid resolution. In this post, I share the entire story including many new facts that we have learned in the last 24 hours, and hold nothing back from the public domain, including…
In the context of previous posts, wondering why the community is still using "Mendelian Randomization" despite it being such a misnomer. It's not using Mendelian segregation randomness, and it's susceptible to confounding by population structure just like any GWAS.
When I thought I was done with the GWAS stories of 2023 and I should wrap up, @StephenORahilly dropped yet another great paper from his team. How can I resist? It's storytelling time. In this hot-off-the-press Nature paper, @DrFejzo et al. uncover an absolutely fascinating…
Great to see this coming out today nature.com/articles/s4158… Thanks to all the collaborators who made this happen. If you are interested to read more please see this blog bit.ly/GDF-15_HG_Blog/
A new exciting paper from deCODE (Stacey, Zink et al. Nat Gen) on the genetics of clonal hematopoiesis (CH) finds "no evidence that CH is associated with cardiovascular disease". While this contradicts many previous influential papers, it also aligns with many, dividing the…
Wonderful thread from @MutationalSig describing our paper exploring somatic mutations in psoriasis, published earlier this week in @NatureGenet. A timely read on #WorldPsoriasisDay.
Today on #WorldPsoriasisDay, please check out our manuscript that is just out in @NatureGenet about somatic evolution in the skin of psoriasis patients nature.com/articles/s4158…
Prospective analysis of incident disease among individuals of diverse ancestries using genetic and conventional risk factors medrxiv.org/content/10.110… via @adamauton et al
a must-read paper
Our paper, showing PRS are predictive of incident disease - not just classifiers of existing disease: medrxiv.org/content/10.110…