High throughput barcoding method for genome-scale phasing

• Published in: Scientific reports Vol. 9; no. 1; p. 18116
• Main Authors: Redin, David, Frick, Tobias, Aghelpasand, Hooman, Käller, Max, Borgström, Erik, Olsen, Remi-Andre, Ahmadian, Afshin
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 02.12.2019; Nature Publishing Group
• Subjects: 45; 45/23; 45/77; 631/1647/514/1948; 631/1647/514/2254; Data Visualization; DNA Barcoding, Taxonomic; Gene Library; Genetic diversity; Genome, Human; Genomics; Genomics - methods; Haplotypes; High-Throughput Nucleotide Sequencing - methods; Humanities and Social Sciences; Humans; multidisciplinary; Science; Science (multidisciplinary)
• ISSN: 2045-2322; 2045-2322
• 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.