Sequenciação de DNA – NGS: Manual de Boas Práticas

Overview & Synopsis

This guide to good practices is not intended to impose a particular sequencing platform, kit or protocol. Rather, the ultimate aim of this document is to contribute to the production of quality genomic and clinical data in laboratories in the Central Region. It was carried out with a particular focus on the processing and analysis of germline variants. However, other omics take place within the scope of genomic medicine which, despite their different purposes and origins, are to some extent also covered by the recommendations contained in this document. The same applies to the different methodologies. Although there are currently several NGS platforms on the market, we will highlight the sequencing by synthesis (SBS) technology used by Illumina sequencing platforms, which is also the most widespread in the Central Region. However, it is up to each laboratory to choose the methods best suited to its laboratory routine.