iiinova — where your digital self keeps evolving

Matt Hurles

@mehurles.bsky.social

Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.

Posts Replies Media

Reposted by Matt Hurles

Doug Fowler @dougfowler.bsky.social · 15/05/2025

Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542... 1/n

zenodo.org

Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance

At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...

13627

Matt Hurles @mehurles.bsky.social · 09/04/2025

An important step towards being able to predict gene expression from DNA sequence - cooperative binding of TFs to DNA characterised at an unprecedented scale

032

Reposted by Matt Hurles

Neil Shubin @neilshubin.bsky.social · 08/02/2025

Gene editing technology began by people studying salt marshes. Ozempic began by folks studying the venom of Gila Monsters. Support for basic science has empowered us to understand our world. Tethering it to applications health has transformed and saved countless lives.

483304713

Reposted by Matt Hurles

Leopold Parts @leopoldparts.bsky.social · 15/01/2025

We are happy to share our enhancer scramble story, a strategy to create hundreds of stochastic deletions, inversions, and duplications within mammalian gene regulatory regions and associate these new architectures with gene expression levels 🧵 www.biorxiv.org/content/10.1...

318376

Reposted by Matt Hurles

Mike Inouye @mikeinouye.bsky.social · 12/11/2024

The Sudlow Review of the UK's health data landscape together with 5 corresponding recommendations has been released 👉 www.hdruk.ac.uk/helping-with...

052