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Quantifying influences on intragenomic mutation rate

Simon, Helmut; Huttley, Gavin


We report work to quantify the impact on the probability of human genome polymorphism both of recombination and of sequence context at different scales. We use population-based analyses of data on human genetic variants obtained from the public Ensembl database. For recombination, we calculate the variance due to recombination and the probability that a recombination event causes a mutation. We employ novel statistical procedures to take account of the spatial auto-correlation of recombination...[Show more]

CollectionsANU Research Publications
Date published: 2020
Type: Journal article
Source: G3: Genes, Genomes, Genetics
DOI: 10.1534/g3.120.401335
Access Rights: Open Access


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