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Processing and analyzing multiple genomes alignments with MafFilter

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Dutheil,  Julien Y.
Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society;

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Citation

Dutheil, J. Y. (2020). Processing and analyzing multiple genomes alignments with MafFilter. In J. Y. Dutheil (Ed.), Statistical population genomics (pp. 21-48). New York: Humana. doi:10.1007/978-1-0716-0199-0_2.


Cite as: https://hdl.handle.net/21.11116/0000-0004-E9B9-5
Abstract
As the number of available genome sequences from both closely related species and individuals withinspecies increased, theoretical and methodological convergences between the fields of phylogenomics andpopulation genomics emerged. Population genomics typically focuses on the analysis of variants, whilephylogenomics heavily relies on genome alignments. However, these are playing an increasingly importantrole in studies at the population level. Multiple genome alignments of individuals are used when structuralvariation is of primary interest and when genome architecture permits to assemblede novogenomesequences. Here I describe MafFilter, a command-line-driven program allowing to process genome align-ments in the Multiple Alignment Format (MAF). Using concrete examples based on publicly availabledatasets, I demonstrate how MafFilter can be used to develop efficient and reproducible pipelines withquality assurance for downstream analyses. I further show how MafFilter can be used to perform both basicand advanced population genomic analyses in order to infer the patterns of nucleotide diversity alonggenomes.