A hybrid approach for de novo human genome sequence assembly and phasing.

ABSTRACT: Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.

SUBMITTER: Mostovoy Y 

PROVIDER: S-EPMC4927370 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature