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• W1945920881 startingPage "841" @default.
• W1945920881 abstract "Accurate assessment of genetic variation in human DNA sequencing studies remains a nontrivial challenge in clinical genomics and genome informatics. Ascribing functional roles and/or clinical significances to single nucleotide variants identified from a next-generation sequencing study is an important step in genome interpretation. Experimental characterization of all the observed functional variants is yet impractical; thus, the prediction of functional and/or regulatory impacts of the various mutations using in silico approaches is an important step toward the identification of functionally significant or clinically actionable variants. The relationships between genotypes and the expressed phenotypes are multilayered and biologically complex; such relationships present numerous challenges and at the same time offer various opportunities for the design of in silico variant assessment strategies. Over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants in the protein coding regions. In this review, we provide an overview of the bioinformatics resources for the prediction, annotation and visualization of coding single nucleotide variants. We discuss the currently available approaches and major challenges from the perspective of protein sequence, structure, function and interactions that require consideration when interpreting the impact of putatively functional variants. We also discuss the relevance of incorporating integrated workflows for predicting the biomedical impact of the functionally important variations encoded in a genome, exome or transcriptome. Finally, we propose a framework to classify variant assessment approaches and strategies for incorporation of variant assessment within electronic health records." @default.
• W1945920881 created "2016-06-24" @default.
• W1945920881 creator A5016416266 @default.
• W1945920881 creator A5043599202 @default.
• W1945920881 creator A5063108133 @default.
• W1945920881 creator A5076779054 @default.
• W1945920881 creator A5085014608 @default.
• W1945920881 date "2015-10-22" @default.
• W1945920881 modified "2023-09-25" @default.
• W1945920881 title "Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment" @default.
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