Determination of complete chromosomal haplotypes by bulk DNA sequencing

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tourdot, Richard W., Brunette, Gregory J., Pinto, Ricardo A., Zhang, Cheng-Zhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101039/
https://www.ncbi.nlm.nih.gov/pubmed/33957932
http://dx.doi.org/10.1186/s13059-021-02330-1
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at (10.1186/s13059-021-02330-1).

Ejemplares similares