Sequencing and assembly of the human genome. Homo sapiens

WES is an important approach for confirming genetic disorders in patients with severe short statures of unknown etiologies, suggesting that it could be used as a primary diagnostic strategy. The retrospective study entailed investigation of Chinese children with short statures of unknown etiologies recruited between 2017 and 2021.Whole-exomesequencing (WES) was performed on these patients to identify the potential genetic etiologies.The WES results were used to identify 31 different variants in 18 genes among 24patients.The filtered variants were subsequently sorted on the basis of the inherited patterns and correlations between the patient phenotypes and mutant genes. The candidate variants were then classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG) after comprehensive analysis of all results.