Figure 1 | Genetics in Medicine

Figure 1

From: Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Figure 1

Detection of clinically relevant CNVs in a cohort of broad genetic disorders. (a) The cohort screened for large copy-number variants (CNVs) consisting of 2,603 patients spanning 13 heterogeneous disorders, including neurodevelopmental disorders, deafness, blindness, renal disorders, metabolic disease, immunodeficiency, muscle disorders, craniofacial anomalies, sex dysmorphy, movement disorders, and hereditary cancers. (b) The number of patients for whom a conclusive diagnosis could be made based on a pathogenic CNV and the number of candidate CNVs identified per cohort.

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