Fig. 1 | Journal of Human Genetics

Fig. 1

From: Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique

Fig. 1

Overview of haplotype phasing. A A scheme showing three SNPs and their combinations in trisomy cells. In this example, there are theoretically 216 combinations of the three single nucleotide polymorphisms (SNPs) on the three chromosomes. Any given allele cannot be distinguished from others, which makes haplotype phasing difficult. B Diagram explaining the haplotype phasing method in trisomy cells in the study. The three corrected disomy cells are used, in each of which one chromosome is deleted from trisomy cells. By comparing the base information of the WGS data at the same position between each corrected disomy cell line, the base on the erased chromosome can be determined if the corrected disomy is homozygous at that position

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