Members of the Nunes da Fonseca Research Lab (NUPEM/UFRJ, Macaé) recently participated in a specialized training course on exome sequencing delivered by Eder Pires (Illumina). The course combined theoretical foundations with hands-on training, covering key aspects of whole-exome sequencing (WES), from library preparation using capture-based approaches to sequencing strategies on Illumina platforms and downstream data analysis.
The training brought together a multidisciplinary team, including postdoctoral researchers, technologists, and technical staff. Participants included Danielle Santos (FAPERJ technologist), Isabella Nogueira (postdoctoral researcher), and UFRJ technical assistants Marcelle Vianna and Beatriz Salgado. This composition reflects the lab’s commitment to integrating different levels of expertise in advanced genomics workflows.
Participants were trained in critical steps of the exome sequencing pipeline, including DNA quality assessment, target enrichment, sequencing optimization, and best practices for variant detection. In addition, the course covered bioinformatics workflows for exome data analysis, including read processing, alignment, variant calling, and interpretation of genetic variants.
These approaches are directly aligned with ongoing projects in the lab, particularly those focused on genomic analyses of rare diseases and population-specific variation. The training therefore represents an important step toward consolidating in-house expertise in high-throughput sequencing and data analysis.
Overall, this initiative strengthens the laboratory’s capacity to generate and analyze high-quality exome datasets using state-of-the-art Illumina technologies, while reinforcing NUPEM/UFRJ as a regional hub for advanced genomics training and research.
