Colonna Lab

A pangenome is a comprehensive collection of all the genetic variation present in a species, which overcomes the limitations of reference-based genomics by including both common and rare genetic variations in a single reference genome.

The Human Pangenome Reference Consortium aims to sequence 300 people to create a pangenome of 600 haplotypes and has currently released a first draft of the human pangenome reference based on 47 phased diploid assemblies from a group of genetically diverse individuals

Associate Professor, Department of Genetics, Genomics and Informatics website
University of Tennessee Health Science Center, Memphis, TN

Director, Integrative Genomics Biorpository, Department of Pediatrics
Children’s Foundation Research Institute, Memphis, TN

Senior Researcher (on leave of absence), National Research Council website
Institute of Genetics and Biophysics, Naples, Italy

I graduated in Evolutionary Biology from the University of Naples Federico II and did postdoctoral research at the University of Ferrara (Italy) and at Wellcome Trust Sanger Institute in Cambridge (UK). I was lectures in Genetics and Bioinformatics at the University of Ferrara (Italy). I am now leading the Population genomics laboratory at the University of Tennessee, College of Medicine, in the Department of Genetics, Genomics and Informatics.

ORCID | My GitHub | Google Scholar

I am a genomicist and an expert in human evolutionary and population genomics and bioinformatics. In my postdoctoral research I was part of the international consortium 1000 Genomes[PMID: 26432245; 23128226] where I led contributions to two specific aspects. First, I contributed to develop FunSeq [PMID: 24092746], a tool that integrates non-coding information from relevant biological databases for the functional characterization of non-coding variants. Second, I lead a genome-wide scan to identify genomic regions with exceptionally high levels of population differentiation [PMID: 24980144] demonstrating that these regions are enriched for positive selection events and that one half may be the result of classic selective sweeps. Findings from both sub-projects have since been applied to demographic inference and the molecular diagnosis of cancer and myeloid malignancies [PMID: 27121471, 22446628], and to deeper studies on positive selection at the ABCA12 gene [PMID: 30890716].

During my PhD I worked on human isolated populations contributing to characterize several isolated populations, describing the genomic consequences of isolation [PMID: 17476112, 19550436, 22713810], contributing to genetic association studies [PMID: 16611673, 18162505] and to characterize rare variation [PMID: 28643794]

I founded and led OBiLab, a project on training in Bioinformatics

I am a postdoctoral researcher at the University of Tennessee Health Science Center in the Department of Genetics, Genomics, and Informatics. Prior to this, I worked as a postdoctoral researcher at the National Research Council in Italy. I earned a Ph.D. in Molecular Bioscience from the University of Campania "Luigi Vanvitelli." Before that, I completed my Master’s degree in Biology at the University of Naples Federico II, where I conducted my thesis in molecular biology at the Department of Biology.

My GitHub | Google Scholar

I work on admixture mapping and pangenomics analysis in the BIG project, with a focus on connecting genotypes and phenotypes in admixed individuals through admixture mapping. I also lead sequence analysis for projects related to early embryonic development.

I earned my degree in Biology from the University of Buenos Aires, Argentina, where I also completed my PhD in Computational Biology at the Calculus Institute. My research primarily focused on developing mathematical models for kinship inference, employing a Bayesian Approach. I am a postdoc in the Colonna lab, where my work centers on population genomics.

Github profile | Google Scholar

I am currently working on Admixture Mapping and Pangenomics Analysis in the Biorepository and Integrative Genomics (BIG) Initiative Cohort project. My focus is on studying recent natural selection signals in admixed populations. Additionally, I have a deep interest in evolution and how to compute processes that shape the history of life.

I graduated in Molecular Biology at the University of Campania Luigi Vanvitelli, where I also completed my PhD program in Molecular Life Sciences. After the PhD I continued my work as researcher, focusing on the analysis of DNA methylation in imprinting disorders. I am visiting Dr. Colonna laboratory at the University of Tennessee, College of Medicine, in the Department of Genetics, Genomics and Informatics.

ORCID

I analyze long-read sequencing data from human samples with mosaic methylation defects. My work focuses on identifying the mechanisms behind these defects by testing the roles of de novo mutations in cis and somatic recombination events that may arise during early embryogenesis.

I have a master degree in Molecular Biology from the university of Ghana, I am a PhD candidate in the Biomedical Science program of the Department of Genetics Genomics and Informatics in co-supervision with Dr. Ashbrook.

My GitHub | Google Scholar

I study mitochondrial DNA variation and its contribution to disease susceptibility in both the BXD mice and the BIG cohort.

I earned a Bachelor of Science in Microbiology at the University of Tennessee, Knoxville. I have a background in spoilage detection and mycology identification in the food and beverage industry.

I oversee sample collection and processing for the Integrative Genomics Biorepository that supports the BIG project.