Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual.

ABSTRACT: Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unamplified DNA and applied it to the smallest human chromosome, the Y chromosome. Here, we modify improve upon that workflow to increase DNA recovery from chromosome sorting as well as sequencing yield. We apply it to sequence and assemble the largest human chromosome - chromosome 1 - of a Chinese individual using a single Oxford Nanopore MinION flow cell. We generate a selective and highly continuous assembly whose continuity reaches into the order of magnitude of the human reference GRCh38. We then use this assembly to call candidate structural

SUBMITTER: Kuderna LFK 

PROVIDER: S-EPMC6962354 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature