{
  "abstract": "We read with interest the report by Janot et al describing an individual with elevated steroid precursors suggestive of 11β-hydroxylase deficiency and clinical features consistent with congenital adrenal hyperplasia (CAH).1 A single paternally inherited frameshift variant in CYP11B1 prompted manual scrutiny of read alignments and the identification of an intragenic inversion NC_000008.11(NM_000497.4):c.[892_1121+7 inv;1121+8_1121+9del]. This inversion had evaded detection by both Sanger sequencing and next-generation sequencing (NGS) analysis using a custom bioinformatics pipeline. Using data from the 100 000 Genomes Project (100kGP)2 and UK Biobank (UKB),3 we use existing structural variant (SV) calls and a nearby tagging variant to establish that this inversion is relatively widespread, algorithmically detectible from short-read sequencing data and likely arose from a shared ancestor ~90 generations ago.",
  "authors": [
    {
      "affiliations": [
        "Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"
      ],
      "name": "Alistair T Pagnamenta"
    },
    {
      "affiliations": [
        "Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"
      ],
      "name": "Timothy S Hall"
    },
    {
      "affiliations": [
        "Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"
      ],
      "name": "Caroline F Wright"
    },
    {
      "affiliations": [
        "Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK"
      ],
      "name": "Emma L Baple"
    }
  ],
  "title": "Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion",
  "uid": "9f253b1e-a1d4-56c1-8988-bf5d7158e708"
}