High throughput barcoding method for genome-scale phasing.

Redin D, Frick T, Aghelpasand H, Käller M, Borgström E, Olsen RA, Ahmadian A

Sci Rep 9 (1) 18116 [2019-12-02; online 2019-12-02]

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.

NGI Stockholm (Genomics Applications) [Collaborative]

NGI Stockholm (Genomics Production) [Collaborative]

National Genomics Infrastructure [Collaborative]

QC bibliography QC xrefs

PubMed 31792271

DOI 10.1038/s41598-019-54446-x

Crossref 10.1038/s41598-019-54446-x

pii: 10.1038/s41598-019-54446-x
pmc: PMC6889410