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High throughput barcoding method for genome-scale phasing
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab.
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-3174-2096
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab.
KTH, Centres, Science for Life Laboratory, SciLifeLab. KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology.ORCID iD: 0000-0001-6813-3051
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2019 (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
NATURE PUBLISHING GROUP , 2019. Vol. 9, article id 18116
National Category
Biochemistry and Molecular Biology
Identifiers
URN: urn:nbn:se:kth:diva-265973DOI: 10.1038/s41598-019-54446-xISI: 000500558400001PubMedID: 31792271Scopus ID: 2-s2.0-85075912541OAI: oai:DiVA.org:kth-265973DiVA, id: diva2:1381171
Funder
Science for Life Laboratory - a national resource center for high-throughput molecular bioscience
Note

QC 20191220

Available from: 2019-12-20 Created: 2019-12-20 Last updated: 2020-01-13Bibliographically approved

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Redin, DavidFrick, TobiasAghelpasand, HoomanKäller, MaxBorgström, ErikAhmadian, Afshin

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