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    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

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    Author
    Tan, NB; Stapleton, R; Stark, Z; Delatycki, MB; Yeung, A; Hunter, MF; Amor, DJ; Brown, NJ; Stutterd, CA; McGillivray, G; ...
    Date
    2020-11
    Source Title
    Molecular Genetics and Genomic Medicine
    Publisher
    WILEY
    University of Melbourne Author/s
    Amor, David; Delatycki, Martin; Tan, Tiong Yang; Lunke, Sebastian; Fanjul-Fernandez, Miriam; Stark, Zornitza; White, Susan; Yeung, Alison; Stutterd, Chloe; Brown, Natasha; ...
    Affiliation
    Paediatrics (RCH)
    Melbourne School of Population and Global Health
    Clinical Pathology
    Metadata
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    Document Type
    Journal Article
    Citations
    Tan, N. B., Stapleton, R., Stark, Z., Delatycki, M. B., Yeung, A., Hunter, M. F., Amor, D. J., Brown, N. J., Stutterd, C. A., McGillivray, G., Yap, P., Regan, M., Chong, B., Fanjul Fernandez, M., Marum, J., Phelan, D., Pais, L. S., White, S. M., Lunke, S. & Tan, T. Y. (2020). Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. MOLECULAR GENETICS & GENOMIC MEDICINE, 8 (11), https://doi.org/10.1002/mgg3.1508.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/252574
    DOI
    10.1002/mgg3.1508
    Abstract
    Background Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases. Methods We examined data from 58 unsolved cases referred between June 2016 and March 2017. First reanalysis at 4–13 months after the initial report considered genes newly associated with disease since the original analysis; second reanalysis at 9–18 months considered all disease‐associated genes. At 25–34 months we reviewed all cases and the strategies which solved them. Results Reanalysis of existing ES data alone at two timepoints did not yield new diagnoses. Over the same timeframe, 10 new diagnoses were obtained (17%) from additional strategies, such as microarray detection of copy number variation, repeat sequencing to improve coverage, and trio sequencing. Twenty‐seven peer‐reviewed articles were identified on the literature review, with a median new diagnosis rate via reanalysis of 15% and median reanalysis timeframe of 22 months. Conclusion Our findings suggest that an interval of greater than 18 months from the original report may be optimal for reanalysis. We also recommend a multi‐faceted strategy for cases remaining unsolved after singleton ES.

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    • Clinical Pathology - Research Publications [620]
    • Melbourne School of Population and Global Health - Research Publications [5352]
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