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Context dependent mutation biases in the human genome

Alıcı, Ahmet Yetkin
Different types of mutations occur and spread in the genome at varying rates. For instance, C->T transitions at CpG sites are the most frequent mutation in mammalian genomes. In contrast, GC-biased gene conversion causes A or T->G or C mutations to spread and fix rapidly in populations. Such fixation biases have not yet been investigated taking neighbouring sequence context into account. Using human population genomic data from the 1000 Genomes Project and comparative genomic data from other primates, possible fixation biases in the human genome at the level of quintuplets (5 bp sequences where the middle base is mutated) will be investigated.