Maria Angela Diroma

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

The paper presents a high-quality genome assembly of the sea stickleback and reveals chromosomal fusions and fissions that reshape understanding of karyotype evolution in sticklebacks.

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.

The paper identifies convergent evolution of a plant supergene through multiple genomic architectures, showing the same gene is duplicated and co-opted independently in different species.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper uses whole genome sequencing to analyze genetic differentiation and plasticity in sympatric morphs of Arctic charr across multiple lakes, revealing a polygenic basis and varying levels of reproductive isolation.

The paper describes the European Reference Genome Atlas (ERGA) pilot project, which tests a decentralized model for producing high-quality reference genomes across 98 European species.

The paper presents a high-quality genome assembly for the ant Lasius platythorax using long-read sequencing and Hi-C, providing insights into the genomic basis of trait differentiation in ant species.

HPC-REDItools improves RNA-editing analysis by enabling faster processing of large datasets using MPI-based parallel computing.