Sven E. Ojavee

Copy-number variants as modulators of common disease susceptibility

This study identifies 73 CNV-related disease signals in 331,522 UK Biobank participants, showing CNVs increase disease risk and earlier onset, with polygenic effects and gene dosage impacts.

Genetic insights into the age-specific biological mechanisms governing human ovarian ageing

The paper identifies age-specific genetic effects on age at natural menopause using UK Biobank data, revealing varying biological pathways and health outcomes across menopause timing.

Liability-scale heritability estimation for biobank studies of low prevalence disease

The paper estimates liability-scale heritability for low prevalence diseases using biobank data and finds differences in heritability estimates across theoretical methods.

Improving GWAS discovery and genomic prediction accuracy in Biobank data

This paper improves genomic prediction and GWAS discovery in biobank data using a Bayesian grouped mixture of regressions model, achieving higher accuracy and detecting more loci than existing methods.

Novel discoveries and enhanced genomic prediction from modelling genetic risk of cancer age-at-onset

This paper improves cancer genomic prediction by analyzing age-at-diagnosis instead of case-control data, finding new genomic regions and enhancing prediction accuracy using Bayesian time-to-event modeling.

Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits

The paper introduces a Bayesian model, BayesRR-RC, to infer the genetic architecture of complex traits and finds that most genetic variance is attributed to non-proximal regulatory and coding regions.

Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis

This paper introduces BayesW, a Bayesian method for analyzing time-to-event phenotypes, showing improved statistical power and prediction accuracy for age-at-onset traits in large-scale datasets.

Integrative omics approach to identify the molecular architecture of inflammatory protein levels in healthy older adults

This study identifies genetic and epigenetic factors associated with inflammatory protein levels in older adults using GWAS and EWAS with a Bayesian framework.