Anne O'Donnell-Luria
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
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.
July 1, 2025 at 4:34 PM
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.
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 Home Page
psb.stanford.edu
June 29, 2025 at 3:01 AM
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
Reposted by Anne O'Donnell-Luria
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!
May 1, 2025 at 7:58 PM
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!
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).
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…
buff.ly
November 24, 2024 at 9:37 AM
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).
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.
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
Beautiful application of single cell omics to disentangle the expansion of CAG repeats to specific cell types in patients of Huntington’s disease
November 4, 2023 at 5:58 PM
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.
Reposted by Anne O'Donnell-Luria
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
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)
November 1, 2023 at 7:16 PM