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Updated: Mar 7, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
reGenotyper: Detecting mislabeled samples in genetic data
Konrad Zych1, Basten L Snoek2, Mark Elvin3
1Groningen Bioinformatics Centre, University of Groningen, Groningen, The Netherlands.
Abstract:
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.
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