HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES

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.