Andrea Guarracino

COSIGT: population-scalable genotyping of complex loci from low-coverage sequencing data using pangenome graphs

Abstract Pangenome graphs capture extensive structural diversity, but resolving complex loci from shallow sequencing remains challenging, particularly when samples are of low quality such as in ancient DNA. We introduce COSIGT (COsine SImilarity-based GenoTyper), which assigns di...

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

Tandem repeats play critical roles in human disease and phenotypic diversity but are among the most challenging classes of genomic variation to measure accurately. Long-read sequencing has the potential to accurately characterize long and complex tandem repeats. While an increasi...