Margaux L.A. Hujoel

The paper identifies 11 human genetic loci associated with oral microbiome composition and host-microbial interactions linked to tooth decay.

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

The paper introduces PROD-ATAC, a method to study chromatin effects of protein-coding variants, revealing common dysregulation mechanisms across oncofusions and cancers.

The paper identifies protein-altering structural variants in UK Biobank data and finds associations with various quantitative traits, including hypertension and type 2 diabetes risk.

The paper identifies non-coding VNTRs associated with glaucoma and colorectal cancer risk using UK Biobank data and statistical imputation.

This paper develops a computational method to detect rare CNVs in UK Biobank data, identifies 269 CNV-trait associations, and highlights novel gene-trait relationships.

This study combines polygenic risk scores with family history to improve disease risk prediction across diverse populations, showing significant gains in accuracy.

The paper analyzes recessive Mendelian disease variants in UK Biobank to find mitigated phenotypes in heterozygous carriers, identifying associations with quantitative and disease traits.

This paper introduces a new association method, LT-FH, that combines case-control status and family history to increase power in genetic association studies, outperforming existing methods across multiple diseases.

The paper analyzes 41 diseases and traits to show transposable elements contribute uniquely to disease heritability, with older elements and SINEs showing specific enrichment patterns.

The paper finds that disease heritability enrichment is higher in ancient, conserved regulatory elements compared to younger or less conserved ones.