A5048361740- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Tracheal and airway disorders
- Cystic Fibrosis Research Advances
- Genetic and phenotypic traits in livestock
- Identification and Quantification in Food
- melanin and skin pigmentation
- Forensic and Genetic Research
- Sleep and related disorders
- Genetic Neurodegenerative Diseases
- Sleep and Wakefulness Research
- Ion channel regulation and function
- Amyotrophic Lateral Sclerosis Research
- Circadian rhythm and melatonin
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- Cardiac electrophysiology and arrhythmias
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Thyroid Cancer Diagnosis and Treatment
- Bioinformatics and Genomic Networks
University of Padua
2013-2025
Universitat Politècnica de Catalunya
2020-2022
Barcelona Supercomputing Center
2020-2022
Abstract Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude X chromosome, and use one reference panel for genotype imputation. We implement an extensive GWAS strategy, GUIDANCE, which improves imputation by using multiple panels includes analysis of chromosome non-additive models to association. apply this methodology 62,281 subjects across 22 age-related diseases identify 94 genome-wide associated loci,...
The genetic component is thought to play an important role in the development of familial non-medullary thyroid carcinoma (fNMTC), but involved molecular mechanisms and genes are poorly understood. MAPK kinase cascade, particularly involving RAS BRAF, crucial cancer development, with RIN1 emerging as a notable gene due its differential expression across various tumor types. We identified frameshift mutation (c.798delC: p.V267Sfs*83) family (NMTC) through Whole-Exome Sequencing....
Abstract PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were assess: i ) the frequency allelic variants at two polymorphic sites (rs57875989 length polymorphism: 4 , 5 ; rs228697 SNP: C G relation timing; ii effect morning light on behavioural/circadian variables /PER3 homozygotes. 786 Caucasian subjects living Northern Italy donated buccal DNA completed diurnal preference, sleep quality/timing...
With the recent advances in next-generation sequencing (NGS), mitochondrial whole-genome has begun to be applied field of forensic biology as an alternative traditional Sanger-type (STS). However, experimental workflows, commercial solutions, and output data analysis must strictly validated before being implemented into laboratory. In this study, we performed internal validation for NGS-based typing entire genome using Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific) on Ion...
Abstract The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture human diseases. However, studies are mainly based on single nucleotide variants (SNVs) and small insertions deletions (indels). Here, we contribute fill this gap by generating dense map focused identification, characterization, phasing structural (SVs). By integrating multiple variant identification methods Logistic Regression Models (LRMs), present...
Abstract Genome-wide association studies (GWAS) are not fully comprehensive as current strategies typically test only the additive model, exclude X chromosome, and use one reference panel for genotype imputation. We implemented an extensive GWAS strategy, GUIDANCE, which improves imputation by using multiple panels, includes analysis of chromosome non-additive models to association. applied this methodology 62,281 subjects across 22 age-related diseases identified 94 genome-wide associated...
ABSTRACT The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture human diseases. However, studies are mainly based on single nucleotide variants (SNVs) and small insertions deletions (indels). Here, we contribute fill this gap by generating dense map focused identification, characterization phasing structural (SVs). By integrating multiple variant identification methods Logistic Regression models, present catalogue...
The identification and characterisation of genomic changes (variants) that can lead to human diseases is one the central aims biomedical research. generation catalogues genetic variants have an impact on specific basis Personalised Medicine, where diagnoses treatment protocols are selected according each patient’s profile. In this context, study complex diseases, such as Type 2 diabetes or cardiovascular alterations, fundamental. However, these result from combination multiple environmental...
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that causes deficiency in mucociliary clearance, with consequent chronic disease of upper and lower airways. Currently, the diagnosis PCD relies on cilium morphology, motility ultrastructure, nasal nitric oxide measurement analysis. The latter hampered by high heterogeneity disease, as autosomal recessive causative mutations have been found 33 different genes. In this study we clinically molecularly characterized first cohort...