Žiga Avsec

Žiga Avsec

@avsecz.bsky.social

Genomics initiative lead at @GoogleDeepMind. Models from our team: Enformer, AlphaMissense, and AlphaGenome.

1.3K followers238 following14 posts

Highlighting two manuscript additions: 1. Data ablation (Supp. Fig 12): RNA-seq + ATAC/DNase proved essential for key evals. h/t @anshulkundaje.bsky.social for the suggestion! 2. Variant Analysis: We found evidence to upgrade a 3’ UTR VUS from Ellingford et al 2022 to "likely pathogenic."

Žiga Avsec reposted

This a really exciting leap forward for genomic sequence to activity gene regulation models. It is a genuine improvement over pretty much all SOTA models spanning a wide range of regulatory, transcriptional and post-transcriptional processes. 1/

Žiga Avsec@avsecz.bsky.social

Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind

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Thanks to the large consortia like ENCODE, FANTOM5, GTEx, 4DNucleome for generating key training data. And finally, thanks to numerous researchers developing inspiring DNA sequence-to-function models, informative evaluations, and interpretation tools.

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A single model can be more convenient to use and deploy - saying this as someone who worked on a model zoo before. SOTA performance across diverse tasks suggests that fine-tuning it on new data should work quite well. One could also extend it with new assays in the future.

I see this model as a fusion of many different DNA sequence-to-function models tackling different steps of gene expression. It also has important new features like splice junction prediction to better capture the complexity of different splicing events.

This all-in-one model was achieved by lots of amazing engineering that unlocked training on base-resolution data with long sequence context without increasing the total training compute - training a single model actually used half of what we used for Enformer on the same (older generation) hardware.

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