Phenotype-based gene analyzer applied to the genetics of microtia

Objective Microtia is a relatively common birth defect, and its etiology is still unclear. In this paper, Phenolyzer, a kind of phenotype-based gene analyzer, was used to prioritize candidate genes involved in microtia. Methods The search term " Microtia" was entered in the Phenolyzer interface. Through the steps of disease matching, gene query, gene scoring, seed gene expansion, the genetic information results of microtia were finally generated. This article traced 10 candidate genes in detail. Results There were 13485 genes associated with microtia or related syndromes, of which 130 were seed genes. Each gene had a corresponding score, and the higher the score, the greater the correlation with the microtia. Among them, the top 10 genes included HOXA2, CHD7, CDT1, CDC6, ORC1, ORC4, ORC6, SMAD4, GLI3 and MED12. Conclusions Phenolyzer provides a detailed summary of candidate genes for microtia, providing accurate research directions for screening high-throughput sequencing results and subsequent studies. Key words: Microtia; Gene; Prioritization; Phenolyzer