Luciana de Gennaro
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View article: A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias
A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias Open
A truly complete, telomere-to-telomere (T2T), and error-free reference genome remains a foundational resource—and long-standing goal—for unbiased comparative and functional genomics. While recent T2T assemblies of humans and other primates…
View article: Identification and Characterization of a Novel Biallelic <scp>SLC12A2</scp> Variant Associated With Kilquist Syndrome ( <scp>OMIM</scp> #619080)
Identification and Characterization of a Novel Biallelic <span>SLC12A2</span> Variant Associated With Kilquist Syndrome ( <span>OMIM</span> #619080) Open
This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, a…
View article: The BioSUD Biobank as a genomic resource for substance use disorders in Italy
The BioSUD Biobank as a genomic resource for substance use disorders in Italy Open
View article: Individuals with substance use disorders experience an increased urge to move to complex music
Individuals with substance use disorders experience an increased urge to move to complex music Open
Substance use disorders disrupt the dopaminergic system of the human brain, which plays a central role in movement and reward processing, altering perception, and cognition. The pleasurable urge to move to music, known as groove, relies on…
View article: Complete sequencing of ape genomes
Complete sequencing of ape genomes Open
The most dynamic and repetitive regions of great ape genomes have traditionally been excluded from comparative studies 1–3 . Consequently, our understanding of the evolution of our species is incomplete. Here we present haplotype-resolved …
View article: PANE: fast and reliable ancestral reconstruction on ancient genotype data with non-negative least square and principal component analysis
PANE: fast and reliable ancestral reconstruction on ancient genotype data with non-negative least square and principal component analysis Open
View article: The genomic portrait of the Picene culture provides new insights into the Italic Iron Age and the legacy of the Roman Empire in Central Italy
The genomic portrait of the Picene culture provides new insights into the Italic Iron Age and the legacy of the Roman Empire in Central Italy Open
Our findings, consistently with archeological hypotheses, suggest genetic interactions across the Adriatic Sea during the Bronze/Iron Age and a high level of individual mobility typical of cosmopolitan societies. Finally, we highlight the …
View article: The BioSUD Biobank: A genomic resource for Substance Use Disorders in Italy
The BioSUD Biobank: A genomic resource for Substance Use Disorders in Italy Open
Substance Use Disorders (SUDs) are a significant public health concern with complex etiologies involving genetic, environmental, and psychological factors. Here we present BioSUD, a biobank that, by integrating genomic data with comprehens…
View article: Genomic Sequencing to Detect Cross-Breeding Quality in Dogs: An Example Studying Disorders in Sexual Development
Genomic Sequencing to Detect Cross-Breeding Quality in Dogs: An Example Studying Disorders in Sexual Development Open
Disorders of sexual development (DSDs) in dogs, similar to humans, arise from genetic mutations, gonadal differentiation, or phenotypic sex development. The French Bulldog, a breed that has seen a surge in popularity and demand, has also s…
View article: Genomic sequencing to detect cross-breeding quality in dogs: an example studying disorders in sexual development
Genomic sequencing to detect cross-breeding quality in dogs: an example studying disorders in sexual development Open
Background Disorders of Sexual Development (DSD) in dogs, similar to humans, arise from irregularities in genetic determinants, gonadal differentiation, or phenotypic sex development. The French Bulldog, a breed that has seen a surge in po…
View article: Complete sequencing of ape genomes
Complete sequencing of ape genomes Open
We present haplotype-resolved reference genomes and comparative analyses of six ape species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang. We achieve chromosome-level contiguity with unparalleled …
View article: The complete sequence and comparative analysis of ape sex chromosomes
The complete sequence and comparative analysis of ape sex chromosomes Open
View article: Fast and reliable ancestral reconstruction on ancient genotype data with non-negative Least square and Principal Component Analysis
Fast and reliable ancestral reconstruction on ancient genotype data with non-negative Least square and Principal Component Analysis Open
The history of human populations has been strongly shaped by admixture events, contributing to the patterns of observed genetic diversity across populations. Given its significance for evolutionary and medical studies, many algorithms focu…
View article: Comparative genomics of macaques and integrated insights into genetic variation and population history
Comparative genomics of macaques and integrated insights into genetic variation and population history Open
The crab-eating macaques ( Macaca fascicularis ) and rhesus macaques ( M. mulatta ) are widely studied nonhuman primates in biomedical and evolutionary research. Despite their significance, the current understanding of the complex genomic …
View article: The Genomic portrait of the Picene culture: new insights into the Italic Iron Age and the legacy of the Roman expansion in Central Italy
The Genomic portrait of the Picene culture: new insights into the Italic Iron Age and the legacy of the Roman expansion in Central Italy Open
Background The Italic Iron Age was characterized by the presence of various ethnic groups partially examined from a genomic perspective. To explore the evolution of Iron Age Italic populations and the genetic impact of Romanization, we foc…
View article: The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes
The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes Open
Apes possess two sex chromosomes—the male-specific Y and the X shared by males and females. The Y chromosome is crucial for male reproduction, with deletions linked to infertility. The X chromosome carries genes vital for reproduction and …
View article: Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy
Assessing temporal and geographic contacts across the Adriatic Sea through the analysis of genome-wide data from Southern Italy Open
Southern Italy was characterised by a complex prehistory that started with different Palaeolithic cultures, later followed by the Neolithization and the demic dispersal from the Pontic-Caspian Steppe during the Bronze Age. Archaeological a…