Silvia Di Maio

This paper demonstrates that UMI-ONT-Seq accurately detects SNPs and quantifies VNTR copy numbers in the complex KIV-2 region across multiple ancestries.

The paper presents a Nextflow pipeline for scalable and reproducible GWAS analysis on large biobank datasets, validated against published datasets and tested on HPC and cloud infrastructures.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.