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    Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

    Ní Ghrálaigh, Fiana and McCarthy, Ellen and Murphy, Daniel N. and Gallagher, Louise and Lopez, Lorna M. (2023) Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism. Journal of Autism and Developmental Disorders, 53. pp. 484-488. ISSN 0162-3257

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    Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.

    Item Type: Article
    Keywords: Autism; Panel; Sequencing; Genomics; Utility;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 18111
    Identification Number:
    Depositing User: Lorna Lopez
    Date Deposited: 06 Feb 2024 10:41
    Journal or Publication Title: Journal of Autism and Developmental Disorders
    Publisher: Springer
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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