Mosè Manni

Abstract Sequencing has transformed microbial studies, enabling metagenomic analysis of microbial communities without the need for culturing or prior knowledge of sample composition. The essential analysis of the primary sequencing reads, however, is complex and led to the development of diverse computational strategies. The plethora of available methods and their numerous parameters poses a practical challenge for practitioners and creates a visibility barrier for developers of novel approaches.

Abstract Human pan-genome studies offer the opportunity to identify human non-reference sequences (NRSs) which are, by definition, not represented in the reference human genome (GRCh38). NRSs serve as useful catalogues of genetic variation for population and disease studies and while the majority consists of repetitive elements, a substantial fraction is made of non-repetitive, non-reference (NRNR) sequences.