Amicia Phillips challenging traditional definitions of 'actionability' in the context of genomic #newbornscreening #ICoNS25

Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25.

🦴 majority with P/LP variants have do not have multiple fractures

Impact on protein supported by proteomic data

👀 Preprint out today
www.medrxiv.org/content/10.1...

At #ICoNS25 meeting in London the last 2 days (sorry for absence of livetweets!)

Exploring the future of genomics as part of routine #NewbornScreening worldwide

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