Discovering the mysteries of life. One algorithm at a time.

Joined November 2009
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If you could read the DNA of half a million people, would you do it and why? Would it work? What would you learn? To answer this and several related questions, let me walk you through the work my @RegeneronDNA colleagues just published in Nature. 1/24 nature.com/articles/s41586-0…

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Goncalo Abecasis retweeted
This week's news podcast features Doug Weir (@ceobs_org) on the impact of conflict on health and the environment; @gabecasis (@Regeneron) on gene variants and smoking; Viktoria Eleftheriadou (BAD) on vitiligo; and Daniel Harris (@Penn) on Neanderthals thenakedscientists.com/podca…
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Red is delayed. LaGuardia today. 1/67 flights is on time.
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Equally important, continuing the personal genetics business means that the challenge and mission of communicating information about health and disease to customers will continue. There’s few things more special than helping people understand themselves and the world. 3/4
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On a scientific level, very few teams have successfully organized genetic studies of millions of people and conducted meaningful analyses at this scale. Certainly seemed impossible my career was starting and we had not sequenced even 1 genome. What a dream team! 4/4
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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
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Human genetics advancing at speed because technology, sample size, great phenotypes, smart people. #ASHG24 If interested in NY area models toolkits for health records and phenotypic data to be organized across millions of people… DM me. Great coding, clear thinking. 2/3
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Okay, okay … even though #ASHG was critical in meeting great friends and landing the best jobs I ever had … I am not just #hiring. If you are trying to sequence 100,000s of well characterized samples, we @RegeneronDNA would like to help. DM me or stop by #ASHG24 booth. 3/3
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Very touching “Stand Up 2 Cancer” moment in the Yankees - Dodgers World Series. As geneticists and scientists, we should stand up 2 cancer too. It’s incredible what targeted therapies have done, and we are only skimming the surface of what they can do. Watch this space.
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Goncalo Abecasis retweeted
28 Jul 2023
Music Artists as Superheroes This satire teaser was ENTIRELY made with AI 🤯 Images (Midjourney) Motion (RunwayML Gen2) A THREAD 🧵👇 SOUND ON 🔊
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Goncalo Abecasis retweeted
Not sure how you can look at this data, ostensibly be interested in either meritocracy or equality, and want to move away from standardized tests. It's the subjective measures that are most slanted in favor of the rich kids. nytimes.com/interactive/2023…
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@ewanbirney⁩ I am not worthy! It’s like comparing a nice coffee that the barista just prepared in your local coffee joint with the instant coffee you found on the counter and warmed in the microwave!
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Goncalo Abecasis retweeted
A 🧵 on some of my intuitions/priors about the genetics of complex and molecular traits in humans (i.e. what I think of as typical), largely motivated by GWAS/QTL studies over the past decade [citing papers with nice figures where possible]
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Goncalo Abecasis retweeted
My personal gratitude to @J__Stock for his partnership on so much of our TOPMed #CHIP work. Josh has written TWO first author Nature papers and another forthcoming manuscript in @ScienceAdvances -- a singularly impressive PhD track record! nature.com/articles/s41586-0…
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Goncalo Abecasis retweeted
🚨 Publication alert: largest to date multiancestry exome analysis of body fat distribution discovers INHBE mutations associated with favorable adiposity and PROTECTION from diabetes! 🚨 Out today in @NatureComms 👇🧵 key takeaways below… nature.com/articles/s41467-0…
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Goncalo Abecasis retweeted
3 Aug 2022
Importantly CIDEB mutations show the largest protection of liver disease in obese people, also lower liver inflammation in bariatric surgery patients from @GeisingerRsrch: A very important finding because #obesity is THE #1 risk factor for #NASH.
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Goncalo Abecasis retweeted
3 Aug 2022
Our discovery of mutations in the CIDEB gene that protect against liver disease is published in @NEJM, leading to possible #RNAi therapeutics for NASH by Regeneron & Alnylam. 🚨 nejm.org/doi/full/10.1056/NE… A short summary of the key findings 🧬🧵↓
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Goncalo Abecasis retweeted
3 Aug 2022
The amazing thing of @RegeneronDNA is that we now “pass the baton” to our colleagues and top-notch medicine developers to drive the CIDEB program forward. And now back at it: unearthing protective human genetics that may lead to new medicines.Stay tuned! bit.ly/3biYQhQ

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