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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
The common origin of symmetry and structure in genetic sequences
Giampaolo Cristadoro1, Mirko Degli Esposti2, Eduardo G Altmann3
1Dipartimento di Matematica e Applicazioni, Università di Milano-Bicocca, 20125, Milano, Italy. giampaolo.cristadoro@unimib.it.
Abstract:
Biologists have long sought a way to explain how statistical properties of genetic sequences emerged and are maintained through evolution. On the one hand, non-random structures at different scales indicate a complex genome organisation. On the other hand, single-strand symmetry has been scrutinised using neutral models in which correlations are not considered or irrelevant, contrary to empirical evidence. Different studies investigated these two statistical features separately, reaching minimal consensus despite sustained efforts. Here we unravel previously unknown symmetries in genetic sequences, which are organized hierarchically through scales in which non-random structures are known to be present. These observations are confirmed through the statistical analysis of the human genome and explained through a simple domain model. These results suggest that domain models which account for the cumulative action of mobile elements can explain simultaneously non-random structures and symmetries in genetic sequences.
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