NovoGraph: Human genome graph construction from multiple long-read de novo assemblies.

ABSTRACT: Genome graphs are emerging as an important novel approach to the analysis of high-throughput human sequencing data. By explicitly representing genetic variants and alternative haplotypes in a mappable data structure, they can enable the improved analysis of structurally variable and hyperpolymorphic regions of the genome. In most existing approaches, graphs are constructed from variant call sets derived from short-read sequencing. As long-read sequencing becomes more cost-effective and enables de novo assembly for increasing numbers of whole genomes, a method for the direct construction of a genome graph from sets of assembled human genomes would be desirable. Such assembly-based genome graphs would encompass the wide spectrum of genetic variation accessible to long-read-based de

SUBMITTER: Biederstedt E 

PROVIDER: S-EPMC6305223 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature