Identification of polymorphic inversions from genotypes |
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| Authors: | Alejandro Cáceres Suzanne S Sindi Benjamin J Raphael Mario Cáceres Juan R González |
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| Institution: | 1.Center for Research in Environmental Epidemiology (CREAL),and Institut Municipal d'Investigació Mèdica (IMIM),Barcelona,Spain;2.CIBER Epidemiología y Salud Pública (CIBERESP),Barcelona,Spain;3.Department of Molecular Biology, Cellular Biology and Biochemistry, and Center for Computational Molecular Biology,Brown University,Providence,USA;4.Department of Computer Science, and Center for Computational Molecular Biology,Brown University,Providence,USA;5.Institut de Biotecnologia i de Biomedicina,Universitat Autonoma de Barcelona, 08193 Bellaterra, and Institució Catalana de Recerca i Estudis Avancats (ICREA),Barcelona,Spain |
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| Abstract: | Background Polymorphic inversions are a source of genetic variability with a direct impact on recombination frequencies. Given the difficulty
of their experimental study, computational methods have been developed to infer their existence in a large number of individuals
using genome-wide data of nucleotide variation. Methods based on haplotype tagging of known inversions attempt to classify
individuals as having a normal or inverted allele. Other methods that measure differences between linkage disequilibrium attempt
to identify regions with inversions but unable to classify subjects accurately, an essential requirement for association studies. |
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