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. 2016 Jun 30;7:12065. doi: 10.1038/ncomms12065

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(a) Average coverage versus GC contents for 100-bp windows in Illumina data and PacBio data, respectively. The mean and s.d. values are shown. (b) Distribution of PacBio coverage for regions that have ≤5 × coverage in Illumina data. (c) Shared SNVs discovered in HX1, AK1, HuRef, NA12878 and YH. (d) Variant reduction pipeline to identify pathogenic variant; although 20 were annotated as ‘pathogenic' in ClinVar, careful analysis failed to support any one.