Alex Di Genova

nf-sarcopipe identifies exercise-responsive miRNAs and miRNA-mRNA regulatory networks in skeletal muscle adaptation using integrative analysis of miRNA discovery and transcriptomic data.

The paper presents a large multi-omic dataset of lung neuroendocrine tumours, including genomics, transcriptomics, methylation, spatial proteomics, and histopathology, enabling comprehensive molecular and morphological analysis.

RFhap improves haplotype-resolved de novo assembly of human genomes by enhancing phasing accuracy and reducing errors compared to existing methods.

This study uses ultra-deep sequencing to analyze intra-host SARS-CoV-2 diversity and co-infection-driven evolution in Chilean patients, finding increased genetic diversity and positive selection in the Spike gene during co-infections.

This study examines how willow and pine tree growth affects bacterial abundance, interactions, and metabolic profiles in copper mine tailings, finding that tree growth reduces copper levels and promotes more active bacterial communities.

This study sequences the giant Y chromosome of Silene latifolia and reveals its structure, function, and evolutionary history.

This study identifies physiological and genetic adaptations in Cistanthe longiscapa that enable survival in the Atacama Desert, including CAM metabolism and expanded gene families.

The paper develops a Nextflow pipeline for BRCA1/2 variant detection in Chilean breast cancer patients using targeted sequencing and variant callers, identifying one pathogenic variant among 16 samples.

The paper analyzes microbial communities from a copper tailing using metagenomics to compare their metabolic and evolutionary traits with soil bacteria, identifying new taxa and functional adaptations.

This paper presents a comprehensive molecular characterization of Malignant Pleural Mesothelioma using multi-omics data from 120 patients, integrating with existing datasets to create an interactive molecular phenotype map.

The paper presents the genome of Sitophilus oryzae, revealing high transposable element content and host-symbiont metabolic interactions.

The paper introduces WO_SCPCAPENGANC_SCPCAP, a hybrid de novo assembler for human genomes that improves contiguity and quality using long and short reads, achieving results better than the current reference genome.

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.

FAST-SG is an alignment-free algorithm for hybrid genome assembly that outperforms short read aligners and enables accurate genome reconstruction with low coverage and resources.

This paper presents the genome sequence of Penicillium purpurogenum, showing a high gene dosage for lignocellulolytic enzymes and validating its potential for industrial applications.