Predicting phenotypic severity of uncertain gene variants in the RET Proto-Oncogene

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Publication Type pre-print
School or College School of Medicine
Department Biomedical Informatics
Creator Mitchell, Joyce A.
Other Author Crockett, David K.; Piccolo, Stephen R.; Ridge, Perry G.; Margraf, Rebecca L.; Lyon, Elaine; Williams, Marc S.
Title Predicting phenotypic severity of uncertain gene variants in the RET Proto-Oncogene
Date 2011-01-01
Description Although reported gene variants in the RET oncogene have been directly associated with multiple endocrine neoplasia type 2 and hereditary medullary thyroid carcinoma, other mutations are classified as variants of uncertain significance (VUS) until the associated clinical phenotype is made clear. Currently, some 46 non-synonymous VUS entries exist in curated archives. In the absence of a gold standard method for predicting phenotype outcomes, this follow up study applies feature selected amino acid physical and chemical properties feeding a Bayes classifier to predict disease association of uncertain gene variants into categories of benign and pathogenic. Algorithm performance and VUS predictions were compared to established phylogenetic based mutation prediction algorithms. Curated outcomes and unpublished RET gene variants with known disease association were used to benchmark predictor performance. Reliable classification of RET uncertain gene variants will augment current clinical information of RET mutations and assist in improving prediction algorithms as knowledge increases.
Type Text
Publisher Public Library of Science (PLoS)
Volume 6
Issue 3
First Page e18380
Dissertation Institution University of Utah
Language eng
Bibliographic Citation Crockett, D. K., Piccolo, S. R., Ridge, P. G., Margraf, R. L., Lyon, E., Williams, M. S., & Mitchell, J. A, (2011). Predicting phenotypic severity of uncertain gene variants in the RET Proto-Oncogene. PLoS ONE, 6(3), e18380.
Rights Management (c)Joyce A. Mitchell
Format Medium application/pdf
Format Extent 447,520 bytes
Identifier uspace,17861
ARK ark:/87278/s6cc1jfj
Setname ir_uspace
Date Created 2012-09-28
Date Modified 2012-10-02
ID 708156
Reference URL https://collections.lib.utah.edu/ark:/87278/s6cc1jfj
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