The future of HOPE: what can and cannot be predicted about the molecular effects of a disease causing point mutation in a protein?

Authors

  • Francesca Camilli CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500HB Nijmegen
  • Annika Borrmann CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500HB Nijmegen
  • Shima Gholizadeh CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500HB Nijmegen
  • Tim AH te Beek NBIC, Netherlands Bioinformatics Centre, Geert Grooteplein 28, 6525 GA Nijmegen
  • Remko KP Kuipers Laboratory of Systems and Synthetic Biology, Wageningen University; Bio-Prodict, Dreijenplein 10, 6703 HB Wageningen
  • Hanka Venselaar CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500HB Nijmegen

DOI:

https://doi.org/10.14806/ej.17.1.212

Keywords:

SNPs, point mutations analysis, HOPE, structural bioinformatics

Abstract

Next generation sequencing is greatly speeding up the discovery of point mutations that are causally related to disease states. Knowledge of the effects of these point mutations on the structure and function of the affected proteins is crucial for the design of follow-up experiments and diagnostic kits, and ultimately for the implementation of a cure. HOPE can automatically predict the molecular effects of point mutations. HOPE does this by massively collecting highly heterogeneous data related to the protein and the mutated residue followed by automatic reasoning that as much as possible mimics the thinking of a trained bioinformatician. We discuss HOPE and review today's possibilities and challenges in this field.

Availability: HOPE is running as a web server available at www.cmbi.ru.nl/hope/

Embnet.journal 17.1

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Published

2011-05-18

Issue

Vol. 17 No. 1: Next Generation Sequencing Data Analysis

Section

Technical Notes

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