Now new and improved and out on Genome Medicine! link.springer.com/article/10.1... - ThreadSky

ee-reh-neh.bsky.social • 79 days ago

Now new and improved and out on Genome Medicine!

https://link.springer.com/article/10.1186/s13073-024-01392-7

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The bottleneck of course is a generic high throughout MAVE assay suitable for all proteins.
Are you aware of any work in this regard?
This seems in the right direction: https://pubmed.ncbi.nlm.nih.gov/32000841/

ee-reh-neh.bsky.social•72 days ago

No, for sure - not all genes are suitable for the same approach, and generic DMS/MAVE are only gonna apply to some genes. But there's enough technologies out there that most should fit any given gene; the breadth of methods in this piece is 🤯 https://journals.biologists.com/dmm/article/17/6/dmm050573/358943

ee-reh-neh.bsky.social•72 days ago

There's also some up-and-coming multimodal assays that target specific phenotypes, eg: https://www.nature.com/articles/s41592-024-02456-7

I'm not sure all of these techs are ready for massive high throughput just yet, but it does feel like they will be, soon enough!

ericfauman.bsky.social•72 days ago

These papers look great! Thanks for the links.

billbio.bsky.social•72 days ago

High-content imaging seems like a promising general MAVE readout. @drannecarpenter.bsky.social is co-lead on several projects in this vein (VarChamp, VISTA). Should be applicable as PS3/BS3 so long as you can validate using the criteria of Brnich et al https://doi.org/10.1186/s13073-019-0690-2

billbio.bsky.social•72 days ago

I think it makes a lot of sense for pharma to support MAVE efforts pre-competitively. Many companies are going after the same genetic diseases, and all would benefit from improved variant interpretation

jovmaksimovic.bsky.social•79 days ago

Congrats! 🎉🥳

stemcellsystems.bsky.social•79 days ago

Congratulations Irene!

elainesanij.bsky.social•79 days ago

Congrats Irene 🎉 I’m glad we managed a quick celebration! Here’s to many more great papers and achievements 🥂

ee-reh-neh.bsky.social•78 days ago

Thanks Elaine! I have no doubt we'll have many good reasons to get together again soon :)

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