Metodologias emergentes de larga escala na era pós-genómica: benefícios e questões éticas

• Autor(a) principal: Gomes, Anita Q.
• Data de Publicação: 2022
• Outros Autores: Soares, Helena
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.25758/set.1661
• topic: Genoma humano; Sequenciação em larga escala; Edição do genoma; Ética; Human genome; Next-generation sequencing; Genome editing; Ethical issues

The fields of molecular cell biology and human genetics have recently experienced several revolutions that have brought new knowledge and new technologies. Large-scale sequencing and global functional characterization studies allow simultaneously monitoring thousands of sequences and molecules, thus generating a large amount of data and giving a real-time molecular details snapshot of an individual. In this review, we briefly refer to some of these novel techniques, including next-generation sequencing methods and CRISPR/Cas9 editing gene systems. The major applications and implications of these novel technologies in research and molecular diagnostics are presented. Ethical issues raised by the implementation of these methods in healthcare systems in the near future are discussed.