Anne O'Donnell-Luria

74PUBLICATIONS
718CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Flight dynamicsEvolutionary computationData qualityGene mapping
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Publications (74)

|Sep 24, 2026
AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants.

|Sep 24, 2026
Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease.

|Aug 27, 2026
Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

|Jul 03, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|Jun 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

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Frequent Collaborators

19 joint publications

Daniel G MacArthur

16 joint publications

Konrad J Karczewski

14 joint publications

Heidi L Rehm

13 joint publications

Jessica Alföldi