Chunk #7 — Online Methods — Copy number variation and methylation

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

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We verified the absence of any copy number variation in the PWS region (15q11.2-q13) by analysis of the CNV calls generated by Complete Genomics in the CNV report files (http://www.completegenomics.com/customer-support/documentation/100357139.html) and by clinical chromosome microarray analysis26.