Ryan Tewhey

Exited to share our recent work on viral cis-regulatory elements in collaboration with @tewhey.bsky.social!
We identified >2000 CREs across the genomes of 27 human-infecting dsDNA viruses from the Herpesvirus, Adenovirus, Papillomavirus, and Polyomavirus families.
www.biorxiv.org/content/10.1...
1/8

Multiplexed assays of variant effect for clinical variant interpretation Nature Reviews Genetics - Multiplexed assays of variant effect (MAVEs) are highly scalable experimental approaches used to generate functional data for genetic variants. In this Review, McEwen et...

Interested in using functional data to understand clinical variants? Been hunting for a good review of the topic? We just wrote one! rdcu.be/exaEU

Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542...

1/n

1/n 🚨Very excited to share our recent work!🚨
To understand gene regulation across diverse environmental conditions and cellular contexts, we treated a broad array of human cell types with three environmental exposures in vitro.
www.biorxiv.org/content/10.1...

Proud to share our lab’s first student preprint!🚀@j-c-butts.bsky.social, @alwaysrong.bsky.social, @sagergosai.bsky.social leveraged our MPRA models to predict variant effects, providing scores for the complete catalog of human variation. Grateful for another fun collab with @stevereilly.bsky.social.

In 15 yrs of reporting, I've never had so many health & biomed researchers & outreach orgs tell me they're afraid to talk w/press or barred from speaking bc of new comms policies.

I understand the fear of losing funds. I don't know if silence does more harm than good. If you can speak up, pls do.

a cartoon says hey everybody an old man 's talking while bart simpson looks on ALT: a cartoon says hey everybody an old man 's talking while bart simpson looks on

A special Bluetorial about one of my mentors Ruth Kirschstein

Among Ruth Kirschstein’s many contributions to American science was the development and expansion of programs intended to increase participation of people from groups underrepresented in biomedical research.

Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation - Nature Genetics Borzoi adapts the Enformer sequence-to-expression model to directly predict RNA-seq coverage, enabling the in-silico analysis of variant effects across multiple layers of gene regulation.

Super excited to announce our latest flagship model Borzoi: major props to Johannes & David Kelley et al for advancing it. It's been a long journey from our prior Enformer model into this one. A few innovations: i) longer DNA context, ii) adaptation to predict RNA-seq abundance and splice isoforms,

Our ChromBPNet preprint out!

www.biorxiv.org/content/10.1...

Huge congrats to Anusri! This was quite a slog (for both of us) but we r very proud of this one! It is a long read but worth it IMHO. Methods r in the supp. materials. Bluetorial coming soon below 1/

Thanks @stephenturner.us for highlighting our work!