Figure 1.
The flowchart is divided into three main sections: Traditional Methods, Current N G S Strategy, and Emerging Technologies. Traditional Methods include Sanger Sequencing and Targeted Gene Panels (T G P s), with limitations such as low yield and limited scope. Current N G S Strategy includes Chromosomal Microarray Analysis (C M A), Whole-Exome Sequencing (W E S), and Whole-Genome Sequencing (W G S), each with specific yields and limitations. Emerging Technologies include Long-read Sequencing, R N A Sequencing (R N A-seq), and Epigenetic Analysis, each offering improved resolution and functional context. The flowchart also highlights the importance of Multi-Omics Integration and Collaboration for resolving complex and unsolved cases, with periodic re-analysis. Each section and method is clearly labeled with its respective yields, limitations, and specific applications.
Summary of the evolution of genetic techniques used for IEI diagnosis. CNV, copy-number variant; NGS: next-generation sequencing; SVs: structural variants; TGPs: targeted gene panels; VUS: variants of uncertain significance; WES: whole-exome sequencing; WGS: whole-genome sequencing.