Bioinformatics and omics data management in genetic diagnosis

Next Generation Sequencing (NGS) encompasses a range of technologies that have transformed genomic research since the 2000s. By allowing the sequencing of large DNA fragments at a significantly lower cost than Sanger sequencing, NGS has become an indispensable tool in molecular laboratories, particularly in the field of molecular genetics. Its high efficiency and speed make it a first-line technique in genetic analysis. A crucial step in achieving a diagnosis is bioinformatics analysis. Short-read sequencing technology generates raw data that must be processed to extract meaningful and interpretable information. This process enables the identification of causal links between genetic findings and phenotypic traits. Clinical bioinformatics specialists carry out this analysis using specialized tools and pipelines, which take into account the specific characteristics of the sequencing platforms, protocols and the particular diseases under study. The quality review is an essential complement to the pipeline analysis. Its primary objective is to assess which samples are suitable for diagnosis and, in cases where results are negative, to identify the reasons, whether they are related to the incidence or other factors. Additionally, the quality review offers insight into the overall effectiveness of the experimental procedures. Despite its many advantages, NGS still faces several challenges, including the need for more efficient technologies, enhanced regulatory frameworks and improved training of medical staff.