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Fig. 4 | Genome Medicine

Fig. 4

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. 4

A short tandem repeat expansion in ATXN7 is identified by WGS. a The pedigree and number of ATXN7 CAG repeats are illustrated under each individual. b The PCR-amplified CAG-repeat data from the father shows one normal sized allele and one expanded allele (top chromatogram). In the bottom chromatogram, the results from the affected child are shown. c Integrative Genomics Viewer (IGV) screenshot of the data obtained from FindSV shows the first indication of an ATXN7 abnormality. The aberrant signal was initially interpreted by the program as an insertion of sequence from chromosome 18 (right) into ATXN7 (left)

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Genome Medicine

ISSN: 1756-994X

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