Construction of Whole Genomes from Scaffolds Using Single Cell Strand-Seq Data.

ABSTRACT: Accurate reference genome sequences provide the foundation for modern molecular biology and genomics as the interpretation of sequence data to study evolution, gene expression, and epigenetics depends heavily on the quality of the genome assembly used for its alignment. Correctly organising sequenced fragments such as contigs and scaffolds in relation to each other is a critical and often challenging step in the construction of robust genome references. We previously identified misoriented regions in the mouse and human reference assemblies using Strand-seq, a single cell sequencing technique that preserves DNA directionality Here we demonstrate the ability of Strand-seq to build and correct full-length chromosomes by identifying which scaffolds belong to the same chromosome and determinin

SUBMITTER: Hills M 

PROVIDER: S-EPMC8037727 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature