Characterizing polymorphic inversions in human genomes by single-cell sequencing
作者： Ashley D. Sanders , Mark Hills , David Porubský , Victor Guryev , Ester Falconer
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摘要: Identifying genomic features that differ between individuals and cells can help uncover the functional variants drive phenotypes disease susceptibilities. For this, single-cell studies are paramount, as it becomes increasingly clear contribution of rare but cellular subpopulations is important for prognosis, management, progression. Until now, studying these associations has been challenged by our inability to map structural rearrangements accurately comprehensively. To overcome we coupled sequencing DNA template strands (Strand-seq) with custom analysis software rapidly discover, map, genotype at high resolution. This allowed us explore distribution frequency inversions in a heterogeneous cell population, identify several polymorphic domains complex regions genome, locate alleles reference assembly. We then mapped entire complement within two unrelated characterize their distinct inversion profiles built nonredundant global human genome. The work described here provides powerful new framework study variation heterogeneity samples, whether from population or tissue types biomarker discovery.
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