Homo sapiens Phenotype or Genotype

Current single cell sequencing techniques mask DNA structural rearrangements including inversions, which are polymorphic within normal human populations. Here we show that sequencing only parental DNA template strands (Strand-Seq) in single human cells maps inversions with orders of magnitude greater resolution than previously possible. Using a population of 47 individuals we show the genomic landscape of inversions together with their allele frequencies. Of the 135 inversions identified, 24 were invariant but inverted with respect to the assembly, suggesting that either an extremely rare inversion is represented in the assembly, or these are misorients in the build. In addition, we sequenced 140 single cells from an adult male and 106 single cells from a newborn female to genome and define personal 'invertomes'.