Alex Geary (@alextremophile.bsky.social)

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!! link.springer.com/article/10.1... Key points (A 🧵):

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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease - Genome Medicine Background Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpre... https://link.springer.com/article/10.1186/s13073-025-01464-2?utm_source=rct_congratemailt&utm_medium=email&utm_campaign=oa_20250414&utm_content=10.1186/s13073-025-01464-2