Determination of complete chromosomal haplotypes by bulk DNA sequencing.

ABSTRACT: Haplotype phase represents the collective genetic variation between homologous chromosomes and is an essential feature of non-haploid genomes. Here we describe a computational strategy to reliably determine complete whole-chromosome haplotypes using a combination of bulk long-range sequencing and Hi-C sequencing. We demonstrate that this strategy can resolve the haplotypes of parental chromosomes in diploid human genomes with high precision (>99%) and completeness (>98%) and assemble the syntenic structure of rearranged chromosomes in aneuploid cancer genomes at base pair level resolution. Our work enables direct interrogation of chromosome-specific alterations and chromatin reorganization using bulk DNA sequencing.

SUBMITTER: Tourdot RW 

PROVIDER: S-EPMC8101039 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature