HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies.

ABSTRACT: Achieving complete, accurate, and cost-effective assembly of human genomes is of great importance for realizing the promise of precision medicine. The abundance of repeats and genetic variations in human genomes and the limitations of existing sequencing technologies call for the development of novel assembly methods that can leverage the complementary strengths of multiple technologies. We propose a Hybrid Structural variant Assembly (HySA) approach that integrates sequencing reads from next-generation sequencing and single-molecule sequencing technologies to accurately assemble and detect structural variants (SVs) in human genomes. By identifying homologous SV-containing reads from different technologies through a bipartite-graph-based clustering algorithm, our approach turns a whole gen

SUBMITTER: Fan X 

PROVIDER: S-EPMC5411774 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature