Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment

@article{Shameer2016InterpretingFE,
  title={Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment},
  author={Khader Shameer and Lokesh P. Tripathi and Krishna R. Kalari and Joel T. Dudley and Ramanathan Sowdhamini},
  journal={Briefings in bioinformatics},
  year={2016},
  volume={17 5},
  pages={
          841-62
        }
}
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… 
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