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dc.contributor.authorTan, NB
dc.contributor.authorStapleton, R
dc.contributor.authorStark, Z
dc.contributor.authorDelatycki, MB
dc.contributor.authorYeung, A
dc.contributor.authorHunter, MF
dc.contributor.authorAmor, DJ
dc.contributor.authorBrown, NJ
dc.contributor.authorStutterd, CA
dc.contributor.authorMcGillivray, G
dc.contributor.authorYap, P
dc.contributor.authorRegan, M
dc.contributor.authorChong, B
dc.contributor.authorFanjul Fernandez, M
dc.contributor.authorMarum, J
dc.contributor.authorPhelan, D
dc.contributor.authorPais, LS
dc.contributor.authorWhite, SM
dc.contributor.authorLunke, S
dc.contributor.authorTan, TY
dc.date.accessioned2020-11-27T00:44:26Z
dc.date.available2020-11-27T00:44:26Z
dc.date.issued2020-11
dc.identifier.citationTan, 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.
dc.identifier.issn2324-9269
dc.identifier.urihttp://hdl.handle.net/11343/252574
dc.description.abstractBackground 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.
dc.languageEnglish
dc.publisherWILEY
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0
dc.titleEvaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
dc.typeJournal Article
dc.identifier.doi10.1002/mgg3.1508
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.department
melbourne.source.titleMolecular Genetics and Genomic Medicine
melbourne.source.volume8
melbourne.source.issue11
dc.rights.licenseCC BY-NC-ND
melbourne.elementsid1466237
melbourne.contributor.authorAmor, David
melbourne.contributor.authorDelatycki, Martin
melbourne.contributor.authorTan, Tiong Yang
melbourne.contributor.authorLunke, Sebastian
melbourne.contributor.authorFanjul-Fernandez, Miriam
melbourne.contributor.authorStark, Zornitza
melbourne.contributor.authorWhite, Susan
melbourne.contributor.authorYeung, Alison
melbourne.contributor.authorStutterd, Chloe
melbourne.contributor.authorBrown, Natasha
melbourne.contributor.authorTan, Natalie
dc.identifier.eissn2324-9269
melbourne.accessrightsOpen Access


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