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Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease. nature.com/articles/s4158…

People who don't want to learn how to program can always find a reason why not to. This time it's AI, last time it was that tech was over because the Internet Bubble burst, the time before that it was that all the programming jobs were going to be outsourced to India.

Dubai Airport right now

Thrilled to announce AlphaFold 3 which can predict the structures and interactions of nearly all of life’s molecules with state-of-the-art accuracy including proteins, DNA and RNA. Biology is a complex dynamical system so modeling interactions is crucial blog.google/technology/ai/…

Huge congrats to AI at Meta on the Llama 3.1 release! Few notes: Today, with the 405B model release, is the first time that a frontier-capability LLM is available to everyone to work with and build on. The model appears to be GPT-4 / Claude 3.5 Sonnet grade and the weights are

UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames Nicky Whiffin Xiaolei Zhang 张小蕾 #noncoding

This is chaotic evil. Someone wants to watch the world burn 😂

No cloud at all

27. Melbourne is closer to Antarctica than it is to Darwin

Hot off the press! Our latest publication “SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline”, is out today in @AJHGnews! tinyurl.com/889mn4mj – the result of a fruitful collaboration with the Tartaglia lab in Rome

When you don't have new results to show in lab meeting so you improve your old presentation instead

Did you know AWS has its own coffee shop in downtown Seattle? Beans are $0.012 each, boiling water $2.37 per gallon, cups $0.33, sugar packets $0.47, and cream packets $9.45. Or you can subscribe to Managed Coffee Service which will give you 60 gallons of coffee a month for $127.

I love this xkcd what if on draining Earth’s oceans and dumping them on Mars what-if.xkcd.com/54/

The sooner academic twitter gets off this app the better. In other news, those who want to build their Bluesky social graph, Michel Nivard has put a wonderful Starter Pack on the Statistical Genetics community. go.bsky.app/9643dwo

I'm very excited to have our work on recessive developmental disorders published at Nature Genetics! See here for the tweetorial (x.com/kartikchundru/…). There were some exciting updates during the reviews which I'll highlight here... (1/n) sanger.ac.uk/news_item/most…

Noam Brown Thomas Power OpenAI If you can’t talk about it, it's not research.

This is a great future case study for Australia’s recent legislation that doesn’t allow insurance companies to use genetic data to price premiums especially if a FP DNA testing company goes under and data sold. Australia, you got this one right.

Thanks, Oxford_IDRM and Department of Paediatrics! I really enjoyed reflecting on these questions, and I hope my experiences can be helpful to others. In the link below, I share my thoughts on overcoming challenges and what I've learned along the way!👇 #AdaLovelaceDay

“I think there is a good chance that normalizing flow-based variational inference will displace MCMC as the go-to method for Bayesian posterior inference as soon as everyone gets access to good GPUs.” 😮