Immaculata De Vivo

An epigenome-wide analysis of DNA methylation, racialized and economic inequities, and air pollution

This study investigates how DNA methylation (DNAm) links racial discrimination, economic adversity, and air pollution to health inequities using epigenome-wide association analyses.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

The impact of low input DNA on the reliability of DNA methylation as measured by the Illumina Infinium MethylationEPIC BeadChip

This study evaluates the reliability of DNA methylation measurements using the Illumina Infinium MethylationEPIC BeadChip at low DNA input levels, finding that 40ng DNA can be used with quality checks.

The clinical and functional effects of TERT variants in myelodysplastic syndrome

The paper identifies TERT rare variants in MDS patients, showing shorter telomeres, younger age at diagnosis, and worse survival, suggesting their role in MDS pathogenesis and transplant outcomes.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

This study identifies 13 novel genetic loci associated with endometriosis through a large GWAS meta-analysis and finds genetic links to other pain-related conditions.