Resolving the full spectrum of human genome variation using Linked-Reads.

ABSTRACT: Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However, these short-read approaches fail to give a complete picture of a genome. They struggle to identify structural events, cannot access repetitive regions, and fail to resolve the human genome into haplotypes. Here, we describe an approach that retains long range information while maintaining the advantages of short reads. Starting from ∼1 ng of high molecular weight DNA, we produce barcoded short-read libraries. Novel informatic approaches allow for the barcoded short reads to be associated with their original long molecules producing a novel dat

SUBMITTER: Marks P 

PROVIDER: S-EPMC6442396 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature