title: PyPop: a software framework for population genomics: analyzing large-scale multi-locus genotype data.
abstract: Software to analyze multi-locus genotype data for entire populations is useful for estimating haplotype frequencies, deviation from Hardy-Weinberg equilibrium and patterns of linkage disequilibrium. These statistical results are important to both those interested in human genome variation and disease predisposition as well as evolutionary genetics. As part of the 13th International Histocompatibility and Immunogenetics Working Group (IHWG), we have developed a software framework (PyPop). The primary novelty of this package is that it allows integration of statistics across large numbers of data-sets by heavily utilizing the XML file format and the R statistical package to view graphical output, while retaining the ability to inter-operate with existing software. Largely developed to address human population data, it can, however, be used for population based data for any organism. We tested our software on the data from the 13th IHWG which involved data sets from at least 50 laboratories each of up to 1000 individuals with 9 MHC loci (both class I and class II) and found that it scales to large numbers of data sets well.
authors.affiliation: Department of Integrative Biology, University of California, Berkeley, 3060 Valley Life Sciences, Berkeley, CA 94720, USA. alexl@socrates.berkeley.edu
authors.forename: Alex
authors.initials: A
authors.lastname: Lancaster
authors.forename: Mark P
authors.initials: MP
authors.lastname: Nelson
authors.forename: Diogo
authors.initials: D
authors.lastname: Meyer
authors.forename: Richard M
authors.initials: RM
authors.lastname: Single
authors.forename: Glenys
authors.initials: G
authors.lastname: Thomson
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D005828:Genetics, Population / Q000706:statistics & numerical data*; D023281:Genomics / Q000706:statistics & numerical data*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D012984:Software