PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
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No rare variants evaluated as possibly pathogenic were identified in other genes associated with developmental glaucoma and ocular coloboma in exome data of individual III:4.
“No rare variants evaluated as possibly pathogenic were identified in other genes associated with developmental glaucoma and ocular coloboma in exome data of individual III:4”
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References 22 · Cited by 559
- Authors
- Martin, A. R., Williams, E., Foulger, R. E., Leigh, S., Daugherty, L. C., Niblock, O., Leong, I. U. S., Smith, K. R., Gerasimenko, O., Haraldsdottir, E., Thomas, E., Scott, R. H., Baple, E., Tucci, A., Brittain, H., de Burca, A., Ibañez, K., Kasperaviciute, D., Smedley, D., Caulfield, M., Rendon, A., & McDonagh, E. M.
- Affiliations
- Genomics England (GB)
- Queen Mary University of London (GB)
- Imperial College Healthcare NHS Trust (GB)
- University of Exeter (GB)
- University of Cambridge (GB)
- Corresponding author
- McDonagh, Ellen M.
- ORCID
- Venue
- Nature Genetics
- Published
- 2019-11
- Volume
- 51
- Issue
- 11
- Pages
- 1560-1565
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2984251519
- Cited by
- 559
- References
- 22
- Citations by year
- 2026: 85 · 2025: 101 · 2024: 110 · 2023: 88 · 2022: 81 · 2021: 68 · 2020: 24 · 2019: 1
- FWCI
- 26.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Queen Mary Research Online (Queen Mary University of London) (submittedVersion)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Funders
- National Institute for Health and Care Research (NF-SI-0512-10113, NF-SI-0617-10154, CL-2013-17-001)
- British Heart Foundation (FS/12/82/29736)
- Medical Research Council (MC_EX_MR/M009203/1, MR/S006753/1, MC_PC_14089)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- rare disease diagnosis, diagnostic gene panel, knowledge base
- MeSH terms
- England, Expert Testimony, Genetic Markers, Genetic Testing, Humans, Software, Consensus Sequence, Computational Biology, Consensus, Rare Diseases, High-Throughput Nucleotide Sequencing, Crowdsourcing
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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