{
  "abstract": "Loss-of-function (LOF) variants of the FLG gene are risk factors for atopic dermatitis. However, owing to the repetitive nature of exon 3, these variants are difficult to characterize. We sought to determine whether the use of long-read technologies would enable better characterization of the FLG gene and improve the detection of LOF variants. We sequenced a diverse clinical cohort of 192 samples collected in Belgium, Ireland, and Rwanda using long-read sequencing as well as publicly available data. We identified both common and rare LOF variants linked to atopic dermatitis in our clinical cohort, a number of compound heterozygotes, as well as 1 previously undescribed LOF variant. We also observed 20 previously undescribed FLG alleles, which varied in length by up to 13 kb. These were mostly found in samples of sub-Saharan origin and appear to be products of nonallelic homologous recombination. Despite the use of a long-read–based approach, we did not detect any FLG LOF variants in our African cohort, highlighting differences in FLG LOF burden and atopic dermatitis genetic risk between populations. Our approach has the potential to be a useful tool to identify FLG variants contributing to atopic dermatitis in various human populations.",
  "abstract_shown": true,
  "affiliations": [
    "Laboratory of Human Genetics, GIGA Research Institute, Liège, Belgium;; Center of Genetics, University Hospital, Liège, Belgium",
    "Center of Genetics, University Hospital, Liège, Belgium",
    "Department of Pediatric Dermatology, Clinique CHC MontLegia, Liège, Belgium",
    "Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium",
    "Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, United Kingdom",
    "Clinical Medicine, Trinity College Dublin, Dublin, Ireland",
    "Department of Biochemistry, Molecular Biology and Genetics, University of Rwanda, Kigali, Rwanda",
    "Department of Dermatology, Centre Hospitalier University of Kigali (CHUK), Kigali, Rwanda",
    "Theratopix Pharma S.A., Liège, Belgium",
    "Laboratory of Human Genetics, GIGA Research Institute, Liège, Belgium;; Center of Genetics, University Hospital, Liège, Belgium; Correspondence: Keith Durkin, Human Genetics, University of Liège, CHU - B34, Quartier Hôpital, Avenue de l'Hôpital, 1, Liège 4000, Belgium."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 22,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Victor Grentzinger"
    },
    {
      "affs": [
        0
      ],
      "name": "Maria Artesi"
    },
    {
      "affs": [
        1
      ],
      "name": "Leonor Palmeira"
    },
    {
      "affs": [
        1
      ],
      "name": "Nathalie Renotte"
    },
    {
      "affs": [
        1
      ],
      "name": "Nadine Cambisano"
    },
    {
      "affs": [
        0
      ],
      "name": "Vinciane Dideberg"
    },
    {
      "affs": [
        1
      ],
      "name": "Laura Helou"
    },
    {
      "affs": [
        1
      ],
      "name": "Benoit Charloteaux"
    },
    {
      "affs": [
        1
      ],
      "name": "Bita Dezfoulian"
    },
    {
      "affs": [
        1
      ],
      "name": "Gilles Absil"
    },
    {
      "affs": [
        2
      ],
      "name": "Justine Pêtre"
    },
    {
      "affs": [
        1
      ],
      "name": "Murielle Sabatiello"
    },
    {
      "affs": [
        3
      ],
      "name": "Colombine Meunier"
    },
    {
      "affs": [
        4
      ],
      "name": "W.H. Irwin McLean"
    },
    {
      "affs": [
        4
      ],
      "name": "Aileen Sandilands"
    },
    {
      "affs": [
        5
      ],
      "name": "Maeve A. McAleer"
    },
    {
      "affs": [
        5
      ],
      "name": "Alan D. Irvine"
    },
    {
      "affs": [
        6
      ],
      "name": "Annette Uwineza"
    },
    {
      "affs": [
        7
      ],
      "name": "Alice Amani Uwajeni"
    },
    {
      "affs": [
        8
      ],
      "name": "Sabine Olivier"
    },
    {
      "affs": [
        9
      ],
      "name": "Keith Durkin"
    },
    {
      "affs": [
        0
      ],
      "name": "Vincent Bours"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5jrpeqngzferv.bib",
  "cited_by": 0,
  "doi": "10.1016/j.xjidi.2026.100522",
  "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S2667026726000767",
  "id": "5jrpeqngzferv",
  "issns": [
    "2667-0267"
  ],
  "landing_url": "https://doi.org/10.1016/j.xjidi.2026.100522",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Article"
    ],
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      "lcc",
      "RL1-803"
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  "openalex": "W7196925649",
  "pdf_url": null,
  "pmcid": null,
  "pmid": "42964867",
  "published": "2026-08-06",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/5jrpeqngzferv.ris",
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    {
      "first_seen": "2026-10-30T13:44:57Z",
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2708|Dermatology and Skin Diseases",
      "subfield": "general"
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  "title": "Long-read sequencing of",
  "title_text": "Long-read sequencing of",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:21:37Z",
  "url": "https://research.draconitic.com/paper/5jrpeqngzferv",
  "venue": "JID Innovations",
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