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Matt Hurles

@mehurles

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

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12.11.2024
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Latest posts by Matt Hurles @mehurles

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...

1/n

15.05.2025 15:44 πŸ‘ 36 πŸ” 27 πŸ’¬ 1 πŸ“Œ 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

09.04.2025 16:26 πŸ‘ 3 πŸ” 2 πŸ’¬ 0 πŸ“Œ 0

One for the #HumanGenetics community! 🧬

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

17.02.2025 14:43 πŸ‘ 4 πŸ” 2 πŸ’¬ 0 πŸ“Œ 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.

08.02.2025 13:45 πŸ‘ 3321 πŸ” 718 πŸ’¬ 48 πŸ“Œ 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...

15.01.2025 20:32 πŸ‘ 183 πŸ” 77 πŸ’¬ 3 πŸ“Œ 2

You’re a star!

15.11.2024 14:47 πŸ‘ 1 πŸ” 0 πŸ’¬ 0 πŸ“Œ 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...

12.11.2024 10:05 πŸ‘ 5 πŸ” 2 πŸ’¬ 0 πŸ“Œ 0