Abstract:

Approximately 80% of rare disorders are associated with genetic variations. Although gene sequencing has emerged as the primary approach for identifying genetic variations，the current average positive detection rate remains below 40%，falling short of clinical requirements. This review aims to improve the detection rate of mutant genes by integrating fundamental concepts and recent advancements in several key areas，such as gene coding regions，non-coding regions，DNA methylation，post-detection analysis and gene reanalysis. It aims to propose strategies and methodologies that may contribute to more effective clinical gene detection.

Key words: Rare disorder, Genetic disorder, Genetic testing, Positive rate