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

ABSTRACT: Modern sequencing technologies produce a single consensus sequence without distinguishing between homologous chromosomes. Haplotype phasing solves this limitation by identifying alleles on the maternal and paternal chromosomes. This information is critical for understanding gene expression models in genetic disease research. Furthermore, the haplotype phasing of three homologous chromosomes in trisomy cells is more complicated than that in disomy cells. In this study, we attempted the accurate and complete haplotype phasing of chromosome 21 in trisomy 21 cells. To separate homologs, we established three corrected disomy cell lines (ΔPaternal chromosome, ΔMaternal chromosome 1, and ΔMaternal chromosome 2) from trisomy 21 induced pluripotent stem cells by eliminating one chromosome 21 utiliz

SUBMITTER: Wakita S 

PROVIDER: S-EPMC9510051 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature