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Increased #VUS rate among non-White neonates underscores the urgent need for increased #diversity in #variant databases bit.ly/47ZbMAy #NBS #ECS #populationscreening

New #EditorsChoice: Due in part to lack of diversity in sequenced populations, Cook et al. find that genomic sequencing cannot replace biochemical testing for confirmatory diagnosis of an IMD given limitations in understanding of human genetic variation bit.ly/3sW2eId

CALL FOR ABSTRACTS NOW OPEN! Join us at the 2024 Conference on Reproductive Rights: Legal Developments & Challenges, in Amsterdam on May 15-16! Engage with experts Mary Ziegler, Jennifer Merchant, Amrita Pande, Guido de Wert, Heidi Mertes & Michele Goodwin bit.ly/3Uw7Mol

Read our new paper on EHDS here!

Should we be using #polygenic risk score assessment for embryo selection? A new ACMG statement provides an analysis of the clinical utility of preimplantation genetic testing for polygenic disorders and recommendations on whether it should be offered. bit.ly/3SMVqWf

‘All of Us’ genetics chart stirs unease over controversial depiction of race nature.com/articles/d4158…

So far it has been a great first day of our NEW_LIVES conference on genomic newborn screening 👶🧬 Next: Keynote lecture by Prof. Dr. Stephen Kingsmore (5:30 at Heidelberg Academy of Sciences & Humanities - Karlstraße 4, 69117 Heidelberg)

Fantastic talk by Stephen Kingsmore on the use of AI in genomic newborn screening for rapid diagnosis, and how this can save lives. Thanks to Ethics Section Winkler for organizing the event!

Some impressions of Day 2 of our NEW_LIVES-conference. 🧬👶 This morning with talks by Hannah Straub, Mahsa Shabani and Karla Alex in the beautiful International Academic Forum Heidelberg Uni Heidelberg

The revised #EHDS reads sometimes like a manuscript after revisions requested by the reviewer #2.

🚨 We just released the results of a survey that SHOCKED me. AI is already in clinic. 🚨 We asked dermatologists -- are you using large language models in your clinical care? And then we explored what they were using LLMs for. Journal of Investigative Dermatology jidonline.org/article/S0022-…

Join us in Berlin or online for the #eshg2024 #hybridconference! 2 days left to register at the reduced rate until April 10, 2024 at 23:59 CEST before fees increase! 2024.eshg.org/registration/

New paper out! Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics - Genetics in Medicine gimjournal.org/article/S1098-…

Session towards #equity in genomics calling for large-scale African data collection for PRS #eshg2024

It’s a wrap! The wonderful SPC has done its magic again - ⁦European Society of Human Genetics (ESHG)⁩ ⁦eshg_young⁩ have a great program for #eshg2025 in Milan. Many thanks to you all (on picture plus online!)…I can promise everyone: it will be worth everyone’s trip to Milan!

What do we mean by diversity in data in genetics, and how should we achieve the benefits it is designed to bring? Piece in Nature Genetics out today, summarizing a new GA4GH policy framework. A thread. rdcu.be/dTpfu

With great pleasure we announce the next lecture in our IViR Lecture Series, this time co-organised with the Law for Health and Life. On Friday 18 October Leonardo Cervera-Navas (EDPS ) will give a talk about AI & Data Protection: ivir.nl/events/ivir-le… cc @k_irion Amsterdam Law School

We wish you all a Happy New Year! Do not forget to submit your abstract to the #eshg2025 conference until Thursday, January 30, 2025, 23:59 CET. More information and guidelines for submission on our website: 2025.eshg.org/abstracts/

This paper describes the FUTURE-AI framework, which provides guidance for the development and deployment of trustworthy AI tools in healthcare, Karim Lekadir and colleagues bmj.com/content/388/bm…

🚨 It’s finally here! After 3 years of dedicated work, we’re thrilled to share our landmark article presenting the FUTURE-AI framework. This effort united 117 experts to define best practices for building trustworthy AI! 🔗shorturl.at/VF5Ym ➡️future-ai.eu