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Fig. 6 | Genome Medicine

Fig. 6

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

Fig. 6

Genetic architecture of a mixed cohort referred for diagnostic analysis. Each slice of the pie chart represents one individual in the 100 prospective cases analyzed by both chromosomal microarray (CMA) and whole-genome sequencing (WGS) where a causal genetic variant was identified. Type of variants is indicated by colors (UPD, red; repeat expansion, orange; homozygous deletion, light green; heterozygous deletion, dark green; duplication, purple; compound heterozygous SNV, light blue; homozygous SNV, blue; heterozygous SNV, dark blue). Additional complexity is indicated by a * and CNVs detected by WGS first with a ¤

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Genome Medicine

ISSN: 1756-994X

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