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OxoG oxidative artifacts

Geraldine_VdAuweraGeraldine_VdAuwera Cambridge, MAMember, Administrator, Broadie admin
edited October 2015 in Dictionary

Oxidation of guanine to 8-oxoguanine is one of the most common pre-adapter artifacts associated with genomic library preparation, arising from a combination of heat, shearing, and metal contaminates in a sample (doi: 10.1093/nar/gks1443). The 8-oxoguanine base can pair with either cytosine or adenine, ultimately leading to G→T transversion mutations during PCR amplification.

This occurs when a G on the template strand is oxidized, giving it an affinity for binding to A rather than the usual C. Thus, PCR will introduce apparent G>T substitutions in read 1 and C>A in read 2. In the resulting alignments, a given G>T or C>A observation could either be:

  1. a true mutation
  2. an 8-oxoguanine artifact
  3. some other kind of artifact.

The variants (C→A)/(G→T) tend to occur in specific sequence contexts e.g. CCG→CAG (doi:10.1093/nar/gks1443). Although occurring at relatively low frequencies, these artifacts can have profound impacts on variant calling fidelity (doi:10.1093/nar/gks1443).

Post edited by Geraldine_VdAuwera on

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