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High throughput barcoding method for genome-scale phasing
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Number of Authors: 72019 (English)In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 9, article id 18116Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2019. Vol. 9, article id 18116
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Biological Sciences Medical Biotechnology
Identifiers
URN: urn:nbn:se:su:diva-177587DOI: 10.1038/s41598-019-54446-xISI: 000500558400001PubMedID: 31792271OAI: oai:DiVA.org:su-177587DiVA, id: diva2:1385733
Available from: 2020-01-15 Created: 2020-01-15 Last updated: 2020-01-15Bibliographically approved

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Frick, TobiasOlsen, Remi-Andre
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Department of Biochemistry and BiophysicsScience for Life Laboratory (SciLifeLab)
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