ESTUDO DESCRITIVO DAS FERRAMENTAS PARA ANÁLISE GENÔMICA: CARACTERÍSTICAS, POTENCIALIDADES E DESAFIOS

The expansion of data generated by next-generation sequencing (NGS) technologies has increased the importance of bioinformatics in genomic analysis. This study aimed to characterize bioinformatics tools according to their applications, functionalities, limitations, interfaces, and access conditions. A qualitative, exploratory, descriptive, systematized literature review was conducted in Scopus. The search identified 14,051 records; after applying the Brazil geographic filter and eligibility criteria, 212 studies were included, of which 34 described new tools. A purposively selected subset of 55 articles, chosen for recency and completeness of available information, underwent detailed extraction, identifying 310 tools. Established and recent resources, including BLAST, Galaxy, PGAP, Trimmomatic, and SAMtools, were considered alongside user interfaces and machine-learning approaches. Freely accessible tools predominated in the characterized subset, although computational infrastructure, technical requirements, and specialized knowledge may restrict their use. Tool selection should consider the analytical objective, data characteristics, available support, and required resources. No empirical performance benchmarking or formal economic evaluation was conducted.