Anthony P. Catalano
A5066724077- Genomics and Phylogenetic Studies
- Bacterial Infections and Vaccines
- Bacterial Identification and Susceptibility Testing
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Microbial Community Ecology and Physiology
- Bacteriophages and microbial interactions
- Gut microbiota and health
- Machine Learning in Bioinformatics
- Gene expression and cancer classification
- DNA and Nucleic Acid Chemistry
- Nanopore and Nanochannel Transport Studies
Providence College
2017-2022
Nabsys (United States)
2017-2022
Abstract New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution, comprehensiveness. Translating these routine research clinical practice requires robust benchmark sets. We developed the first set for identification of both false negative positive germline SVs, which complements recent efforts emphasizing increasingly comprehensive characterization SVs. To create this a broadly consented son in Personal...
With the advent of routine short-read genome sequencing has come a growing recognition importance long-range, structural information in applications ranging from sequence assembly to detection variation. Here we describe Nabsys solid-state detector capable detecting tags on single molecules DNA 100s kilobases length as they translocate through at velocity greater than 1 megabase pair per second. Sequence-specific are detected with high signal-to-noise ratio. The physical distance between is...
Bacterial genetic diversity is often described solely using base-pair changes despite a wide variety of other mutation types likely being major contributors. Tandem duplication/amplifications are thought to be widespread among bacteria but due their often-intractable size and instability, comprehensive studies these mutations rare. We define methodology investigate amplifications in bacterial genomes based on read depth genome sequence data as proxy for copy number. demonstrate the approach...
Abstract Bacterial genetic diversity is often described using solely base pair changes despite a wide variety of other mutation types likely being major contributors. Tandem duplications genomic loci are thought to be widespread among bacteria but due their intractable size and instability, comprehensive studies the range genome dynamics these mutations rare. We define methodology investigate in bacterial genomes based on read depth sequence data as proxy for copy number. demonstrate...