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Patent

HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES

The present invention provides a method for the analysis of genetic material of a subject, said method comprising: - obtaining continuous polymorphic variant allele frequency (PVAF) values of genetic material of a subject; - obtaining genotype information of a first and second parent; - categorizing the continuous PVAF values in a category corresponding to the first parent based on the genotype information of the first parent and second parent; - segmenting said categorized PVAF values; and - providing the segmented PVAF values to indicate a genetic anomaly in the genetic material of the subject and/or inheritance of the genetic material of the subject.
Patent Publication Number: WO2015028576
Source: WIPO
Year filing: 2014
Year publication: 2015
Status: Requested
Technology domains: Computer technology
Validated for IOF-key: Yes