ACMG
theacmg.bsky.social
American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @gimopenjournal.bsky.social #ACMGMtg26 #ACMGFoundation https://www.acmg.net/ Site Use http://bit.ly/2Xgjd6l
👤 Joined on 20 November 2024
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- 20 Kas 2024, 16:15
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
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Congratulations to NYGC's Saurav Guha, PhD, FACMG, Director of Molecular Diagnostics, on leading the new @theacmg.bsky.social Guideline on Repeat Expansion detection from NGS. Read more here: https//www.gimjour...
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At #ACMGtg26, we connected with 3,000+ providers and spoke with 100+ about #ACTA2 & #MSMDS. Huge thanks to the amazing team making this possible 👏💙 #RareDisease #Genetics @theacmg.bsky.social
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#ACMGMtg26: Researchers noted that TK1 may partially compensate for #TK2 deficiency in vitro, although its contribution to #mtDNA maintenance in this system remains unclear. @theacmg.bsky.social Read more: https://bit.ly/4t0VcLP #RareDisease #TK2d #MedSky
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At @theacmg.bsky.social meeting I heard a lot about the challenges of choosing which variants to report from genetic testing. It's important to understand why this interpretation is so tough, and how we should think about those results as patients. salisburys-take.beehiiv.com/p/why-geneti...
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yay learning @theacmg.bsky.social #MedicalGeneticsAwareness
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