An Integrated Pipeline for Trio-Rapid Genome Sequencing in Critically Ill Infants.
Curr Protoc
; 3(3): e706, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-36971344
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Estado Terminal
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Humans
/
Infant
Idioma:
En
Revista:
Curr Protoc
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China