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Table 2 Overview of the 80 validated CNVs detected by CMA and WGS in 68 patients

From: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Type Found by TIDDIT Found by CNVnator Found by CMA
Deletions
 Recurrent [7] 0 (0%) 7 (100%) 7 (100%)
 Non-recurrent [47] 39 (83%) 44 (94%) 43 (91%)
 Total [54] 39 (72%) 51 (94%) 50 (93%)
Duplications
 Recurrent [5] 0 (0%) 5 (100%) 5 (100%)
 Non-recurrent [18] 15 (83%) 16 (89%) 15 (83%)
 Total [23] 15 (65%) 20 (87%) 21 (91%)
Trisomies
 Total [3] 3 (100%) 3 (100%) 3 (100%)
  1. CMA chromosomal microarray, WGS whole-genome sequencing