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Quality Control Test for Sequence-Phenotype Assignments

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  • Maria Teresa Lara Ortiz
  • Pablo Benjamín Leon Rosario
  • Pablo Luna-Nevarez
  • Alba Savin Gamez
  • Ana Martínez-del Campo
  • Gabriel Del Rio

Abstract

Relating a gene mutation to a phenotype is a common task in different disciplines such as protein biochemistry. In this endeavour, it is common to find false relationships arising from mutations introduced by cells that may be depurated using a phenotypic assay; yet, such phenotypic assays may introduce additional false relationships arising from experimental errors. Here we introduce the use of high-throughput DNA sequencers and statistical analysis aimed to identify incorrect DNA sequence-phenotype assignments and observed that 10–20% of these false assignments are expected in large screenings aimed to identify critical residues for protein function. We further show that this level of incorrect DNA sequence-phenotype assignments may significantly alter our understanding about the structure-function relationship of proteins. We have made available an implementation of our method at http://bis.ifc.unam.mx/en/software/chispas.

Suggested Citation

  • Maria Teresa Lara Ortiz & Pablo Benjamín Leon Rosario & Pablo Luna-Nevarez & Alba Savin Gamez & Ana Martínez-del Campo & Gabriel Del Rio, 2015. "Quality Control Test for Sequence-Phenotype Assignments," PLOS ONE, Public Library of Science, vol. 10(2), pages 1-16, February.
  • Handle: RePEc:plo:pone00:0118288
    DOI: 10.1371/journal.pone.0118288
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