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filingDate 2017-08-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2018-02-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2018029693-A1
titleOfInvention Analysis of methylation status and copy number
abstract A method of diagnosing a disease associated with a DNA repeat sequence is disclosed. The method comprises: (a) determining the number of repeats of a DNA sequence in DNA molecules of a sample of the subject; and (b) determining the CpG methylation status of the DNA molecules, wherein the number of repeats of the DNA sequence and the CpG methylation status of the DNA molecules is indicative of the disease.
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