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Posts by Matt Hurles

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...

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

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11 months ago 36 27 1 0

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

1 year ago 3 2 0 0

One for the #HumanGenetics community! 🧬

@mehurles.bsky.social @hilarycmartin.bsky.social @carlanderson.bsky.social

1 year ago 4 2 0 0

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.

1 year ago 3321 716 48 26
Enhancer scrambling strategy

Enhancer scrambling strategy

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...

1 year ago 183 77 3 2

You’re a star!

1 year ago 1 0 0 0
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The Sudlow Review of the UK's health data landscape together with 5 corresponding recommendations has been released πŸ‘‰ www.hdruk.ac.uk/helping-with...

1 year ago 5 2 0 0