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Collapsed duplications? What to expect amd what to look for

AuthorsHartasánchez Frenk, Diego ; Brasó-Vives, Marina ; Pybus, Marc ; Navarro, Arcadi
Issue DateJul-2015
CitationAnnual Meeting of the Society for Molecular Biology and Evolution (2015)
AbstractSegmental duplications (SDs), defined as >1 kb regions of the genome with >90% similarity between copies, are an ubiquitous characteristic of eukaryotic genomes. Their evolution is known to be complex for several reasons: first, because SDs undergo interlocus gene conversion (IGC), a possible source of variation; second, reduced selective pressures may allow variants to increase in frequency more easily; and third, SDs are mediators of NAHR and formation of CNVs, which in turn are associated with susceptibility to disease. SD detection and characterization has been recognized as being of great importance. Ironically, most of the efforts dedicated to these tasks are aimed at eliminating SDs from genome-wide scans in order to avoid spurious signals coming from duplicated regions. Given that SDs are likely to be possible targets of natural selection, it would seem natural to look for SNPs under selection in duplications. However, to date there is no adequate test to detect selection in duplications precisely because none takes into account their complex evolution. Furthermore, the effect of applying neutrality tests to collapsed duplications is mostly ignored.
DescriptionTrabajo presentado en la Annual Meeting of the Society for Molecular Biology and Evolution (SMBE 2015), celebrada en Viena del 12 al 16 de julio de 2015.
Appears in Collections:(IBE) Comunicaciones congresos
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