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Redin D
Methods in molecular biology (Clifton, N.J.) 2590 (-) 85-99 [2022-11-07; online 2022-11-07]
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.
PubMed 36335494
DOI 10.1007/978-1-0716-2819-5_6
Crossref 10.1007/978-1-0716-2819-5_6