Ivo Violich

The paper presents the first telomere-to-telomere genome for the common marmoset, revealing genomic features and a pangenome resource for biomedical research.

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

The paper uses a complete diploid human genome to study centromeric chromatin organization, revealing that DNA methylation regulates centromere structure and plasticity.

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

The paper describes a comprehensive genomic dataset from a tumor-normal pair with broad consent, generated using multiple sequencing technologies for benchmarking somatic variant detection.

This study evaluates the diagnostic yield of long-read nanopore sequencing in rare disease detection, finding it covers more genes and detects additional variants compared to short-read sequencing.

The paper identifies decreased SNCA expression in Parkinson's Disease blood samples after correcting for immune cell effects, suggesting it as a potential transcriptomic biomarker.

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

This paper develops an automated ML model to predict Parkinson's Disease using multi-modal data, achieving high AUC scores and constructing gene networks relevant to PD.

The paper analyzes sncRNA-seq data from the PPMI cohort to identify miRNAs associated with Parkinson's disease progression and systemic inflammation.

The paper quantifies technical variability in whole blood transcriptome data from the PPMI study using pooled reference samples and describes the dataset's availability.