RESUMO
Trio-rapid genome sequencing (trio-rGS) can assist the genetic diagnosis of critically ill infants given its ability to detect a broad range of pathogenic variants, as well as microbes, simultaneously with high efficiency. To achieve more comprehensive clinical diagnoses, it is essential to propose a recommended protocol in clinical practice. Here, we introduced an integrated pipeline to detect germline variants and microorganisms simultaneously from trio-RGS in critically ill infants, which provides step-by-step criteria for the semi-automatic processing procedures. With this pipeline in clinical application, only 1 ml of peripheral blood is needed for clinicians to provide both genetic and infectious causal information to a patient. The establishment and clinical practice of the method is of great significance for further mining of high-throughput sequencing data and for assisting clinicians in promoting diagnosis efficiency and accuracy. © 2023 Wiley Periodicals LLC. Basic Protocol 1: Experimental pipeline for rapid whole-genome sequencing for the simultaneous detection of germline variants and microorganisms Basic Protocol 2: Computational pipeline for rapid whole-genome sequencing for the simultaneous detection of germline variants and microorganisms.
