Fabio Cumbo

• PhD in Computer Science and Automation Engineering
• Postdoctoral Research Fellow at Cleveland Clinic

Microbial research generates vast and complex data from diverse omics technologies, necessitating innovative analytical solutions. microGalaxy (Galaxy for Microbiology) addresses these needs with a user-friendly platform that integrates 220+ tool suites and 65+ curated workflows for microbial analyses, including taxonomic profiling, assembly, annot...

The continuingly decreasing cost of next-generation sequencing has recently led to a significant increase in the number of microbiome-related studies, providing invaluable information for understanding host-microbiome interactions and their relation to diseases. A common approach in metagenomics consists of determining the composition of samples in...

In this work we introduce the Gini Index, commonly used as a measure of statistical dispersion to evaluate the income inequality within a nation, as an effective and reliable measure of cell specialization. In particular we use it to evaluate and compare the specialization level of normal and tumor cells according to their gene expressions. Obtaine...

Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelination characteristic of HLD revealed homozygosity for a missense single-nucleotide variant (SNV) in EPRS1 (c.4444...

Despite the recent advancements by deep learning methods such as AlphaFold2, in silico protein structure prediction remains a challenging problem in biomedical research. With the rapid evolution of quantum computing, it is natural to ask whether quantum computers can offer some meaningful benefits for approaching this problem. Yet, identifying spec...

Background Neuroblastoma is the most frequent extracranial solid tumour in children, accounting for ∼15% of deaths due to cancer in childhood. The most common clinical presentation are abdominal tumours. An altered gut microbiome composition has been linked to multiple cancer types, and reported in murine models of neuroblastoma. Whether children w...

Background The recent advances in biotechnology and computer science have led to an ever-increasing availability of public biomedical data distributed in large databases worldwide. However, these data collections are far from being “standardized” so to be harmonized or even integrated, making it impossible to fully exploit the latest machine learni...

Data are the most important elements of bioinformatics: Computational analysis of bioinformatics data, in fact, can help researchers infer new knowledge about biology, chemistry, biophysics, and sometimes even medicine, influencing treatments and therapies for patients. Bioinformatics and high-throughput biological data coming from different source...

Mouse models are key tools for investigating host-microbiome interactions. However, shotgun metagenomics can only profile a limited fraction of the mouse gut microbiome. Here, we employ a metagenomic profiling method, MetaPhlAn 4, which exploits a large catalog of metagenome-assembled genomes (including 22,718 metagenome-assembled genomes from mice...

The human microbiome seeding starts at birth, when pioneer microbes are acquired mainly from the mother. Mode of delivery, antibiotic prophylaxis, and feeding method have been studied as modulators of mother-to-infant microbiome transmission, but other key influencing factors like modern westernized lifestyles with high hygienization, high-calorie...

The widespread usage of antimicrobials has driven the evolution of resistance in pathogenic microbes, both increased prevalence of antimicrobial resistance genes (ARGs) and their spread across species by horizontal gene transfer (HGT). However, the impact on the wider community of commensal microbes associated with the human body, the microbiome, i...

Metagenomic assembly enables new organism discovery from microbial communities, but it can only capture few abundant organisms from most metagenomes. Here we present MetaPhlAn 4, which integrates information from metagenome assemblies and microbial isolate genomes for more comprehensive metagenomic taxonomic profiling. From a curated collection of...

The human microbiome is an integral component of the human body and a co-determinant of several health conditions 1,2 . However, the extent to which interpersonal relations shape the individual genetic makeup of the microbiome and its transmission within and across populations remains largely unknown 3,4 . Here, capitalizing on more than 9,700 huma...

It has been observed in different kinds of networks, such as social or biological ones, a typical behavior inspired by the general principle "similarity breeds connections". These networks are defined as homophilic as nodes belonging to the same class preferentially interact with each other. In this work, we present HONTO, a user-friendly open-sour...

Fecal microbiota transplantation (FMT) is highly effective against recurrent Clostridioides difficile infection and is considered a promising treatment for other microbiome-related disorders, but a comprehensive understanding of microbial engraftment dynamics is lacking, which prevents informed applications of this therapeutic approach. Here, we pe...

Metagenomic assembly enables novel organism discovery from microbial communities, but from most metagenomes it can only capture few abundant organisms. Here, we present a method - MetaPhlAn 4 - to integrate information from both metagenome assemblies and microbial isolate genomes for improved and more comprehensive metagenomic taxonomic profiling....

A growing body of evidence supports the notion that the gut microbiome plays an important role in cancer immunity. However, the underpinning mechanisms remain to be fully elucidated. One attractive hypothesis envisages that among the T cells elicited by the plethora of microbiome proteins a few exist that incidentally recognize neo-epitopes arising...

Background: The recent advances in biotechnology and computer science have led to an ever-increasing availability of public biomedical data distributed in large databases worldwide. However, these data collections are far from being “big” enough and “standardized” so to be integrated, making impossible to fully exploit latest machine learning techn...

Aside from PD-L1 expression, biomarkers of response to immune checkpoint inhibitors (ICIs) in non-small-cell lung cancer (NSCLC) are needed. In a previous retrospective analysis, we documented that fecal Akkermansia muciniphila (Akk) was associated with clinical benefit of ICI in patients with NSCLC or kidney cancer. In the current study, we perfor...

A large body of data both in animals and humans demonstrates that the gut microbiome plays a fundamental role in cancer immunity and in determining the efficacy of cancer immunotherapy. In this work, we have investigated whether and to what extent the gut microbiome can influence the antitumor activity of neo-epitope-based cancer vaccines in a BALB...

The gut microbiome plays a key role in cancer immunity. One proposed mechanism is through the elicitation of T cells, which incidentally recognize neo-epitopes arising from cancer mutations ("molecular mimicry (MM)" hypothesis). To support MM, Escherichia coli Nissle was engineered with the SIINFEKL epitope (OVA) and orally administered to C57BL/6...

Background Akkermansia muciniphila is a human gut microbe with a key role in the physiology of the intestinal mucus layer and reported associations with decreased body mass and increased gut barrier function and health. Despite its biomedical relevance, the genomic diversity of A. muciniphila remains understudied and that of closely related species...

Our knowledge about the gut microbiota of pigs is still scarce, despite the importance of these animals for biomedical research and agriculture. Here, we present a collection of cultured bacteria from the pig gut, including 110 species across 40 families and nine phyla. We provide taxonomic descriptions for 22 novel species and 16 genera. Meta-anal...

The advent of Next Generation Sequencing (NGS) technologies and the reduction of sequencing costs, characterized the last decades by a massive production of experimental data. These data cover a wide range of biological experiments derived from several sequencing strategies, producing a big amount of heterogeneous data. They are often linked to a s...

The recent advancements in cancer genomics have put under the spotlight DNA methylation, a genetic modification that regulates the functioning of the genome and whose modifications have an important role in tumorigenesis and tumor-suppression. Because of the high dimensionality and the enormous amount of genomic data that are produced through the l...

With Next Generation DNA Sequencing techniques (NGS) we are witnessing a high growth of genomic data. In this work, we focus on the NGS DNA methylation experiment, whose aim is to shed light on the biological process that controls the functioning of the genome and whose modifications are deeply investigated in cancer studies for biomarker discovery...

Next Generation Sequencing technologies have produced a substantial increase of publicly available genomic data and related clinical/biospecimen information. New models and methods to easily access, integrate and search them effectively are needed. An effort was made by the Genomic Data Commons (GDC), which defined strict procedures for harmonizing...

Lactic acid bacteria (LAB) are fundamental in the production of fermented foods and several strains are regarded as probiotics. Large quantities of live LAB are consumed within fermented foods, but it is not yet known to what extent the LAB we ingest become members of the gut microbiome. By analysis of 9445 metagenomes from human samples, we demons...

Microbial genomes are available at an ever-increasing pace, as cultivation and sequencing become cheaper and obtaining metagenome-assembled genomes (MAGs) becomes more effective. Phylogenetic placement methods to contextualize hundreds of thousands of genomes must thus be efficiently scalable and sensitive from closely related strains to divergent...

Background: Humans have coevolved with microbial communities to establish a mutually advantageous relationship that is still poorly characterized and can provide a better understanding of the human microbiome. Comparative metagenomic analysis of human and non-human primate (NHP) microbiomes offers a promising approach to study this symbiosis. Very...

The continuous growth of experimental data generated by Next Generation Sequencing (NGS) machines has led to the adoption of advanced techniques to intelligently manage them. The advent of the Big Data era posed new challenges that led to the development of novel methods and tools, which were initially born to face with computational science proble...

In the Early Christian catacombs of Rome, the use of the so-called gammadiae was pretty common. Unfortunately, at the daily state of the art, the comprehension of these symbols is still object of discussion for the international research community. In this paper we present the Gammadiae Management System (GMS), a database developed to study and com...

Thanks to Next Generation Sequencing (NGS) techniques, public available genomic data of cancer is growing quickly. Indeed, the largest public database of cancer called The Cancer Genome Atlas (TCGA) contains huge amounts of biomedical big data to be analyzed with advanced knowledge extraction methods. In this work, we focus on the NGS experiment of...

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker discovery in cancer. Since public data on DNA methylation become abundant, and considering the high number of...

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker discovery in cancer. Since public data on DNA methylation become abundant – and considering the high number of...

Summary With increased generation of high-resolution sequence-based “Omics” data, detecting statistically significant effects at different genomic locations and scales has become key to addressing several scientific questions. IWTomics is an R/Bioconductor package (integrated in Galaxy) that, exploiting sophisticated Functional Data Analysis techni...

We present Bioconda (https://bioconda.github.io), a distribution of bioinformatics software for the lightweight, multi-platform and language-agnostic package manager Conda. Currently, Bioconda offers a collection of over 3000 software packages, which is continuously maintained, updated, and extended by a growing global community of more than 200 co...

Proteins are the core and the engine of every process in cells thus the study of mechanisms that drive the regulation of protein expression, is essential. Transcription factors play a central role in this extremely complex task and they synergically co-operate in order to provide a fine tuning of protein expressions. In the present study, we design...

Computational models are essential in order to integrate and extract knowledge from the large amount of -omics data that are increasingly being collected thanks to high-throughput technologies. Unfortunately, the definition of an appropriate mathematical model is typically inaccessible to scientists with a poor computational background, whereas exp...

Data integration is one of the most challenging research topic in many knowledge domains, and biology is surely one of them. However theory and state of the art methods make this task complex for most of the small research centers. Fortunately, several organizations are focusing on collecting heterogeneous data making an easier task to design analy...

Background Data extraction and integration methods are becoming essential to effectively access and take advantage of the huge amounts of heterogeneous genomics and clinical data increasingly available. In this work, we focus on The Cancer Genome Atlas, a comprehensive archive of tumoral data containing the results of high-throughout experiments, m...

Due to the great advances of Next Generation Sequencing (NGS) techniques, bioinformaticians are faced with large amounts of genomic and clinical data, which are growing exponentially. A striking example is The Cancer Genome Atlas (TCGA), whose aim is to provide a comprehensive archive of biomedical data about tumors. Indeed, TCGA contains more than...

Many approaches exist to integrate protein-protein interaction data with other sources of information, most notably with gene co-expression data, to obtain information on network dynamics. It is of interest to look at groups of interacting gene products that form a protein complex. We were interested in applying new tools to the characterization of...

In order to understand a network function, it’s necessary the understanding of its topology, since the topology is designed to better undertake the function, and the efficiency of network function is influenced by its topology. For this reason, topological analysis of complex networks has been an intensely researched area in the last decade. Result...

Network analysis provides deep insight into real complex systems. Revealing the link between topological and functional role of network elements can be crucial to understand the mechanisms underlying the system. Here we propose a Cytoscape plugin (GIANT) to perform network clustering and characterize nodes at the light of a modified Guimerà-Amaral...