{
  "abstract": "Gene2Phenotype (G2P, https://www.ebi.ac.uk/gene2phenotype) exists to improve diagnostic rates in rare Mendelian disease. It shares expert-curated, clinician-reviewed gene-disease associations and is updated twice a month with information from the latest publications. Developmental disorders are the main focus, but information is also available on cardiac, eye, skeletal and skin disorders and cancer.There is an unmet clinical need for detailed, standardised descriptions of molecular mechanism at disease domain level to facilitate more accurate clinicogenomic diagnosis and therapy development. To help mitigate this, the G2P curation process now records broad mechanism (e.g. ‘gain of function’), more detailed categorisation (e.g. ‘assembly-mediated gain of function’), available evidence, observed variant types and inferred variant consequence. The G2P website has been redesigned to share this structured information and to support more intuitive data discovery, browsing and download.The G2P Developmental Disorders panel is incorporated into the Paediatric Disorders gene panel (R27) available in the National Genomic Test Directory. To help accelerate genomic diagnosis, we have developed a tool based on the Ensembl Variant Effect Predictor to filter genotypes obtained from genomic sequencing. VEP-G2P is used in the South East Scotland Genetic Service, with knowledge from G2P, to support rapid, robust identification of genotypes for prioritisation.",
  "authors": [
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "Sarah Hunt"
    },
    {
      "affiliations": [
        "South East Scotland Genetic Service, Edinburgh"
      ],
      "name": "M Ansari"
    },
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "O Austine"
    },
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "E Cibrián"
    },
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "D Lemos"
    },
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "S Pericherla"
    },
    {
      "affiliations": [
        "South East Scotland Genetic Service, Edinburgh"
      ],
      "name": "L Thompson"
    },
    {
      "affiliations": [
        "University of Edinburgh, Edinburgh"
      ],
      "name": "M Yates"
    },
    {
      "affiliations": [
        "European Molecular Biology Laboratory European Bioinformatics Institute, Cambridge"
      ],
      "name": "M Freeberg"
    },
    {
      "affiliations": [
        "Addenbrooke’s Hospital Cambridge University Hospitals, Cambridge",
        "Wellcome Sanger Institute, Cambridge"
      ],
      "name": "H Firth"
    }
  ],
  "title": "P27 Gene2Phenotype: accelerating diagnostic variant filtering with high quality, detailed gene-disease associations",
  "uid": "08b374d2-98b6-5370-97b1-69fbe4e38851"
}