Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

@article{Dasari2014ClinicalPI,
  title={Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.},
  author={Surendra Dasari and Jason D. Theis and Julie A. Vrana and Roman Zenka and Michael T. Zimmermann and Jean-Pierre A. Kocher and W. Edward Highsmith and Paul James Kurtin and A. Latif Dogan},
  journal={Journal of proteome research},
  year={2014},
  volume={13 5},
  pages={2352-8}
}
Shotgun proteomics of hereditary amyloid deposits generates all the information necessary to identify pathogenic mutant peptides and proteins. However, these mutant peptides are invisible to traditional database search strategies. We developed a two-pronged informatics workflow for detecting both known and novel amyloidogenic mutations from clinical… CONTINUE READING