High throughput barcoding method for genome-scale phasing

Sci Rep. 2019 Dec 2;9(1):18116. doi: 10.1038/s41598-019-54446-x.


The future of human genomics is one that seeks to resolve the entirety of genetic variation through sequencing. The prospect of utilizing genomics for medical purposes require cost-efficient and accurate base calling, long-range haplotyping capability, and reliable calling of structural variants. Short-read sequencing has lead the development towards such a future but has struggled to meet the latter two of these needs. To address this limitation, we developed a technology that preserves the molecular origin of short sequencing reads, with an insignificant increase to sequencing costs. We demonstrate a novel library preparation method for high throughput barcoding of short reads where millions of random barcodes can be used to reconstruct megabase-scale phase blocks.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Barcoding, Taxonomic
  • Data Visualization
  • Gene Library
  • Genome, Human
  • Genomics / methods*
  • Haplotypes
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans