{
  "abstract": "Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential to understanding the recurrence risk and physical effects. Currently, diagnosis requires the detection of aberrant methylation and copy number loss via methylation-sensitive assays such as methylation-specific multiplex ligation-dependent probe amplification, and short tandem repeat analysis to detect matUPD and the presence of epimutation. Therefore, a one-step approach that can detect aberrant methylation and underlying genetic mechanisms would be of high clinical value. Here we use nanopore sequencing to delineate the molecular diagnosis of a case with Temple syndrome. We demonstrate the application of nanopore sequencing to detect aberrant methylation and underlying genetic mechanisms simultaneously in this case, thus providing a proof of concept for a one-step approach for molecular diagnosis of this disorder.",
  "authors": [
    {
      "affiliations": [
        "Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada",
        "Bioinformatics Graduate Program, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Sarah Dada"
    },
    {
      "affiliations": [
        "Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada",
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Vahid Akbari"
    },
    {
      "affiliations": [
        "BC Children’s Hospital, Vancouver, British Columbia, Canada",
        "Division of Endocrinology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Duha Hejla"
    },
    {
      "affiliations": [
        "Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada"
      ],
      "name": "Yaoqing Shen"
    },
    {
      "affiliations": [
        "Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada",
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Katherine Dixon"
    },
    {
      "affiliations": [
        "Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada"
      ],
      "name": "Sanaa Choufani"
    },
    {
      "affiliations": [
        "Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada",
        "Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada"
      ],
      "name": "Rosanna A Weksberg"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada",
        "Provincial Medical Genetics Program, BC Women’s Hospital, Vancouver, British Columbia, Canada"
      ],
      "name": "Cornelius F Boerkoel"
    },
    {
      "affiliations": [
        "BC Children’s Hospital, Vancouver, British Columbia, Canada",
        "Division of Endocrinology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Laura Stewart"
    },
    {
      "affiliations": [
        "Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada",
        "BC Children’s Hospital Research Institute, Vancouver, British Columbia, Canada"
      ],
      "name": "Kamilla Schlade-Bartusiak"
    },
    {
      "affiliations": [
        "Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Emma Strong"
    },
    {
      "affiliations": [
        "BC Children’s Hospital, Vancouver, British Columbia, Canada",
        "Division of Endocrinology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Danya Fox"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada",
        "School of Kinesiology, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Daniel Gamu"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada",
        "BC Children’s Hospital, Vancouver, British Columbia, Canada",
        "Provincial Medical Genetics Program, BC Women’s Hospital, Vancouver, British Columbia, Canada",
        "BC Children’s Hospital Research Institute, Vancouver, British Columbia, Canada"
      ],
      "name": "William T Gibson"
    },
    {
      "affiliations": [
        "Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada",
        "Bioinformatics Graduate Program, University of British Columbia, Vancouver, British Columbia, Canada",
        "Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"
      ],
      "name": "Steven J M Jones"
    }
  ],
  "title": "Using long-read sequencing to detect and subtype a case with Temple syndrome",
  "uid": "9bfe4c05-e1d4-5854-87ce-593a9a387a61"
}