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Anne O'Donnell-Luria
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
77 followers44 following1 posts
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AOanneotation.bsky.social

My mind was also blown - amazing work from Bob and the McCarroll lab! I was surprised by the result but it completely fits the clinical picture - and has important therapeutic implications.

PMpmelsted.bsky.social

Robert Handsaker just delivered a mind blowing talk at #ashg23 Beautiful application of single cell omics to disentangle the expansion of CAG repeats to specific cell types in patients of Huntington’s disease

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Reposted by Anne O'Donnell-Luria
SBsambaxter.bsky.social

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD#genechat

GAgnomad-project.bsky.social

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)

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AO
Anne O'Donnell-Luria
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
77 followers44 following1 posts
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