An improved protocol for sequencing of repetitive genomic regions and structural variations using mutagenesis and next generation sequencing.

ABSTRACT: The rise of Next Generation Sequencing (NGS) technologies has transformed de novo genome sequencing into an accessible research tool, but obtaining high quality eukaryotic genome assemblies remains a challenge, mostly due to the abundance of repetitive elements. These also make it difficult to study nucleotide polymorphism in repetitive regions, including certain types of structural variations. One solution proposed for resolving such regions is Sequence Assembly aided by Mutagenesis (SAM), which relies on the fact that introducing enough random mutations breaks the repetitive structure, making assembly possible. Sequencing many different mutated copies permits the sequence of the repetitive region to be inferred by consensus methods. However, this approach relies on molecular cloning in o

SUBMITTER: Sipos B 

PROVIDER: S-EPMC3422288 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature