Characterizing polymorphic inversions in human genomes by single-cell sequencing.

ABSTRACT: Identifying genomic features that differ between individuals and cells can help uncover the functional variants that drive phenotypes and disease susceptibilities. For this, single-cell studies are paramount, as it becomes increasingly clear that the contribution of rare but functional cellular subpopulations is important for disease prognosis, management, and progression. Until now, studying these associations has been challenged by our inability to map structural rearrangements accurately and comprehensively. To overcome this, we coupled single-cell sequencing of DNA template strands (Strand-seq) with custom analysis software to rapidly discover, map, and genotype genomic rearrangements at high resolution. This allowed us to explore the distribution and frequency of inversions in a heter

SUBMITTER: Sanders AD 

PROVIDER: S-EPMC5088599 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature