This repository provides access to several reproducible documents related to our work on genetic polymorphic inversions. It includes [Bioinformatic tools](#Bioinformatic tools) to detect inversions from SNP array data as well as our discoveries of [association between genetic inversions and human traits](# Inversion Association Analyses).
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inveRsion. Bioconductor package to detect new inversions using SNP array data. Paper: Identification of polymorphic inversions from genotypes. Vignette. (https://bmcbioinformatics.biomedcentral.com/articles/10.1186/1471-2105-13-28). Cáceres A, et al. BMC Bioinformatics, 2012. Vignette.
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invClust. R package to call inversions considering ancestry and multidimensional scalling method. Paper: Following the footprints of polymorphic inversions on SNP data: from detection to association tests. Cáceres A and González JR. Nucleic Acids Research, 2015. Vignette.
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scoreInvHap. Bioconductor package to perform inversion calling using experimentally validated inversions. Paper: scoreInvHap: Inversion genotyping for genome-wide association studies. Ruiz-Arenas C, et al. Plos Genetics, 2019. Vignette.
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Inversion association with asthma and obesity. Paper: A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. González JR, et al. Am J Hum Genet, 2014.
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Inversion association with cancer. Paper: Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis. Ruiz-Arenas C, et al. Human Genomics, 2019.
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Inversion association with obesity related traits. Paper: Polymorphic inversions underlie the shared genetic susceptibility of obesity-related diseases. González JR, et al. Am J Hum Genet, 2020. R markdown.