Figure 1 | Genetics in Medicine

Figure 1

From: Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Figure 1

Characteristics of the patient population and the variants detected. (a) The age and sex distribution of patients tested by proband-only medical exome sequencing (POMES). (b) The composition of a 725-outpatients’ cohort. (c) The composition of a 598-inpatients’ cohort. (d) The classification of 961 variants following the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. (e) The composition of 512 pathogenic or likely pathogenic variants. ENT, ear, nose, and throat; HEENT, head, eye, ear, nose, and throat.

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