PLoS ONE (Jan 2017)

reGenotyper: Detecting mislabeled samples in genetic data.

  • Konrad Zych,
  • Basten L Snoek,
  • Mark Elvin,
  • Miriam Rodriguez,
  • K Joeri Van der Velde,
  • Danny Arends,
  • Harm-Jan Westra,
  • Morris A Swertz,
  • Gino Poulin,
  • Jan E Kammenga,
  • Rainer Breitling,
  • Ritsert C Jansen,
  • Yang Li

DOI
https://doi.org/10.1371/journal.pone.0171324
Journal volume & issue
Vol. 12, no. 2
p. e0171324

Abstract

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In high-throughput molecular profiling studies, genotype labels can be wrongly assigned at various experimental steps; the resulting mislabeled samples seriously reduce the power to detect the genetic basis of phenotypic variation. We have developed an approach to detect potential mislabeling, recover the "ideal" genotype and identify "best-matched" labels for mislabeled samples. On average, we identified 4% of samples as mislabeled in eight published datasets, highlighting the necessity of applying a "data cleaning" step before standard data analysis.