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Updated: Aug 14, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Genotyping errors: causes, consequences and solutions
François Pompanon1, Aurélie Bonin, Eva Bellemain
1Laboratoire d'Ecologie Alpine, UMR CNRS 5553, Université Joseph Fourier, B.P. 53, 38041 Grenoble Cedex 9, France. francois.pompanon@ujf-grenoble.fr
Abstract:
Although genotyping errors affect most data and can markedly influence the biological conclusions of a study, they are too often neglected. Errors have various causes, but their occurrence and effect can be limited by considering these causes in the production and analysis of the data. Procedures that have been developed for dealing with errors in linkage studies, forensic analyses and non-invasive genotyping should be applied more broadly to any genetic study. We propose a protocol for estimating error rates and recommend that these measures be systemically reported to attest the reliability of published genotyping studies.
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