Abstract
Complete comprehension of clinically relevant variation among human genomes is likely only to come from sequencing platforms that are cost-efficient, and which feature both accurate base calling and long-range DNA phasing capability. The NGS revolution has struggled to meet the latter of these needs. Here we describe a protocol to address this limitation by preserving the molecular origin of short sequencing reads with an insignificant increase to sequencing costs. Whole haplotype-resolved genomes with megabase-scale phase blocks can be obtained with this method; offering researchers a unique opportunity to tackle the hurdles of de novo sequencing without being limited by a lack of resources.
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Redin, D. (2023). Low-Cost Genome-Scale Phasing with Barcode-Linked Sequencing. In: Peters, B.A., Drmanac, R. (eds) Haploty**. Methods in Molecular Biology, vol 2590. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2819-5_6
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DOI: https://doi.org/10.1007/978-1-0716-2819-5_6
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Publisher Name: Humana, New York, NY
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Online ISBN: 978-1-0716-2819-5
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