Owen M. Siggs

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

This study identifies key considerations for accrediting polygenic risk score testing through stakeholder consultations and proposes checklists for quality assessment.

This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.

This study develops and evaluates patient-centred polygenic risk score reports for glaucoma screening using qualitative interviews to assess preferences and understanding.

The paper uses AI to identify genes associated with intraocular pressure by analyzing morphological changes in trabecular meshwork cells after gene knockouts.

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

This study uses gene knockouts and single-cell RNA sequencing to identify genetic networks contributing to elevated intraocular pressure in glaucoma.

This study profiles genomic structural variation in Indigenous Australians using whole genome long-read sequencing, revealing abundant and previously unannotated variants and unique STR diversity.

This study surveys unaffected individuals' attitudes toward glaucoma polygenic risk testing and identifies factors associated with interest in the test.

The paper adapts ACMG/AMP variant curation guidelines for the myocilin gene, leading to changes in variant classification for 38% of tested variants.

The paper uses AI to label optic nerve head images, enabling cross-ancestry genetic studies and identifying over 200 new loci associated with glaucoma risk.

The paper identifies genetic variants associated with nanophthalmos in an Australian cohort, linking them to clinical features like axial length and hyperopia.

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.

The paper identifies a partial duplication of the CRYBB1-CRYBA4 locus as a cause of autosomal dominant congenital cataract through copy number variant analysis in a pedigree.