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Summary: BIOINFORMATICS
Vol. 20 no. 10 2004, pages 14821485
doi:10.1093/bioinformatics/bth105
Regional and time-resolved mutation patterns
of the human genome
Peter F. Arndt1, and Terence Hwa2
1Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany and 2Physics
Department, University of California at San Diego, La Jolla, CA 92093, USA
Received on October 12, 2003; accepted on February 3, 2004
ABSTRACT
Motivation: Substantial regional variations of substitutional
processes have recently been reported from human/mouse
comparisons. However, several features including the C + G
dependence and the CpG-based transition effect remain
obscure.
Results: Utilizing the vast amount of transposable elements
in the human genome, we performed detailed analysis of the
substitutional and insertion/deletion patterns along the human
lineage in a regional and time-resolved fashion. We observed
a drastic increase in the CpG-based transition frequency at
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