AI Article Synopsis
- * Haplotype phasing is introduced to address this issue by correctly identifying alleles on each chromosome, with an added complexity in trisomy cells like those in trisomy 21.
- * In this study, researchers developed corrected disomy cell lines from trisomy 21 cells to accurately phase 51,596 SNPs on chromosome 21 using whole-genome sequencing and confirmed their findings through direct sequencing of selected SNPs.
Article 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 utilizing the Cre-loxP system. These cells were then whole-genome sequenced by a next-generation sequencer. By simply comparing the base information of the whole-genome sequence data at the same position between each corrected disomy cell line, we determined the base on the eliminated chromosome and performed phasing. We phased 51,596 single nucleotide polymorphisms (SNPs) on chromosome 21, randomly selected seven SNPs spanning the entire length of the chromosome, and confirmed that there was no contradiction by direct sequencing.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9510051 | PMC |
| http://dx.doi.org/10.1038/s10038-022-01049-6 | DOI Listing |
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