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Fig. 5 | Genome Medicine

Fig. 5

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. 5

Prader-Willi syndrome caused by maternal isodisomy. Homozygosity for SNPs on chromosome 15 from WGS data in individual RD_P432. The fraction of homozygous SNPs is shown on the Y axis and the position on chromosome 15 on the X axis. The position of SNRPN is indicated with an arrow. Each gray dot represents the fraction of homozygous SNVs in 10 kb regions. The green line indicates the fraction of homozygous SNV across the entire chromosome, and red lines indicate autozygous regions predicted by rhocall

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Genome Medicine

ISSN: 1756-994X

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