Chromosome-scale mega-haplotypes enable digital karyotyping of cancer aneuploidy.

ABSTRACT: Genomic instability is a frequently occurring feature of cancer that involves large-scale structural alterations. These somatic changes in chromosome structure include duplication of entire chromosome arms and aneuploidy where chromosomes are duplicated beyond normal diploid content. However, the accurate determination of aneuploidy events in cancer genomes is a challenge. Recent advances in sequencing technology allow the characterization of haplotypes that extend megabases along the human genome using high molecular weight (HMW) DNA. For this study, we employed a library preparation method in which sequence reads have barcodes linked to single HMW DNA molecules. Barcode-linked reads are used to generate extended haplotypes on the order of megabases. We developed a method that leverages h

SUBMITTER: Bell JM 

PROVIDER: S-EPMC5737808 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature