Niamh Ryan

BICEP: an extension to indels and copy number variants for rare variant prioritisation in pedigree analysis

BICEP extends its Bayesian model to include indels and copy number variants for rare variant prioritization in pedigrees, showing comparable performance to the original single nucleotide variant model.

Methyl-CpG2-binding protein 2 mediates overlapping mechanisms across brain disorders.

The paper identifies MeCP2 target genes associated with multiple brain disorders and shows they share common molecular mechanisms in neuronal transmission, immunity, and development.

Genome-wide haplotype-based association analysis of major depressive disorder in Generation Scotland and UK Biobank

This study performs a genome-wide haplotype-based association analysis for major depressive disorder using two cohorts, identifying significant haplotypes potentially linked to the disorder.