Mariana Gatto et al. Gustavo Augusto Ferreira Mota Luana Urbano Pagan Marina Politi Okoshi
In recent years, advancements in diagnostic tools have revolutionized biomedical research, particularly in the identification and understanding of various diseases. High-precision technologies such as Next-Generation Sequencing (NGS), coupled with bioinformatics platforms, have enabled detailed analyses of genetic and transcriptomic profiles. This progress has facilitated the detection of genetic variants, molecular signatures, and gene expression patterns, thereby refining the diagnosis of complex diseases and unveiling novel therapeutic targets.
Among these technologies, RNA sequencing (RNA-Seq) —an NGS-based approach for sequencing and quantifying RNA transcripts—has emerged as a key tool. Transcripts can be classified into coding RNAs, such as messenger RNAs (mRNAs) that guide protein synthesis, and non-coding RNAs, including long non-coding RNAs (lncRNAs) and microRNAs (miRNAs), which play regulatory roles in gene expression.LncRNAs modulate transcriptional, epigenetic, and post-transcriptional activity of target genes, whereas miRNAs generally promote mRNA degradation or inhibit translation. The analysis of RNA expression and molecular interactions has broadened our understanding of gene regulatory networks, with promising applications in oncology, inflammatory diseases, and cardiovascular conditions.
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