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Haplotyping and copy number typing using polymorphic variant allelic frequencies
Haplotyping and copy number typing using polymorphic variant allelic frequencies
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机译:使用多态变异等位基因频率的单倍型和拷贝数分型
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摘要
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.
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