Multiplex generation and single cell analysis of structural variants in a mammalian genome.

ABSTRACT: The functional consequences of structural variants (SVs) in mammalian genomes are challenging to study. This is due to several factors, including: 1) their numerical paucity relative to other forms of standing genetic variation such as single nucleotide variants (SNVs) and short insertions or deletions (indels); 2) the fact that a single SV can involve and potentially impact the function of more than one gene and/or cis regulatory element; and 3) the relative immaturity of methods to generate and map SVs, either randomly or in targeted fashion, in in vitro or in vivo model systems. Towards addressing these challenges, we developed Genome-Shuffle-seq, a straightforward method that enables the multiplex generation and mapping of several major forms of SVs (deletio

SUBMITTER: Pinglay S 

PROVIDER: S-EPMC10888807 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature