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Fig. 1 | Genome Medicine

Fig. 1

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. 1

Overview of CNVs and affected individuals included in the validation cohort. a Bar graph showing the size distribution of 79 validated CNVs and three trisomies that were detected with WGS. Deletions are shown in purple, duplications in black, and trisomies in lilac. b Array comparative genomic hybridization plot indicates a heterozygous deletion of 9.3 Mb in individual RD_P77. c Circos plot illustrating the WGS results in the same individual. Discordant read pairs between chromosomes 4 and 7 are shown as gray lines, and the deletion is shown in red

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Genome Medicine

ISSN: 1756-994X

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