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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

Anne O'Donnell-Luria @anneotation.bsky.social · 01/07/2025

Be a part of the inaugural Paediatric Research for the Future of Children (PRFC) global forum in Geneva Switzerland, February 11-13, 2026. Submit your abstract by 31 July.

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Anne O'Donnell-Luria @anneotation.bsky.social · 29/06/2025

I'm looking forward to attending Pacific Symposium on Biocomputing Jan 3-7 2026 on the Big Island of Hawaii and helping to organize the Precision Medicine session. Reminder that you have until August 1st to submit your conference paper for #PSB26. psb.stanford.edu

psb.stanford.edu

PSB Home Page

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Reposted by Anne O'Donnell-Luria

NHGRI AnVIL @anvilproject.org · 01/05/2025

Save the date! Join us #AnVILCommunityConference2025 on September 4-5, 2025 in Nashville, TN. We’ll start with a Networking Event on the evening of September 3, 2025. Dive into genomic data science and cloud computing with scientific talks, poster sessions, and a collaborative CoFest!

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Anne O'Donnell-Luria @anneotation.bsky.social · 24/11/2024

We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).

buff.ly

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Purpose The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP…

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Anne O'Donnell-Luria @anneotation.bsky.social · 04/11/2023

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.

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Reposted by Anne O'Donnell-Luria

Sam Baxter @sambaxter.bsky.social · 01/11/2023

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD v4 finally launched. An open-source dataset of this scale is going make a difference for patients and families with rare disease #genechat

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