| CPC C12Q 1/6809 (2013.01) [C12Q 1/6883 (2013.01); G16B 20/20 (2019.02); G16B 30/10 (2019.02); C12Q 2600/154 (2013.01); C12Q 2600/156 (2013.01)] | 7 Claims |
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1. A method of assigning a parent-of-origin to a chromosome-length haplotype, or of assigning parent-of-origin to one or more alleles contained within the chromosome-length haplotype, for a genome of a subject, the method comprising;
generating chromosome-length haplotypes for each autosomal chromosome of the genome of the subject by:
(i) conducting a first sequencing method that enables determination of long-range phase information;
(ii) conducting a second sequencing method that enables accurate determination and assignment of at least short reads of sequence to a haplotype; and
(iii) using overlapping results of the first and second sequencing methods to generate the chromosome-length haplotypes; and
(iv) determining a methylation status of at least one differentially methylated region (iDMR) associated with each one of the autosomal chromosomes; and
(v) using the determined methylation status of the at least one iDMR associated with each autosomal chromosome to assign a parent-of-origin for each one of the corresponding chromosome-length haplotypes, or to assign a parent of origin to the one or more alleles contained within the corresponding chromosome-length haplotype, based on the determined methylation status of the at least one iDMR associated with each autosomal chromosome.
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