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Title: 1q21.1 syndrome: A perspective on Structural Variant detection & the evolutionary profile of associated protein domains
Author: España Bonilla, Paula
Director: Paytuví Gallart, Andreu
Keywords: long-reads
Issue Date: 21-Jan-2021
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: While 1q21.1 syndrome has been described from clinical aspects, the underlaying genetic mechanisms remain to be discovered. Due to the repetitive nature of the region, patients with this syndrome require long read sequencing strategies for accurate mapping of the region. The region is enriched in segmental duplications such as Olduvai domains that are associated to the phenotype of macro- and microcephaly. The first objective of this study is to design a pipeline for structural variant call in long read sequencing data. The project includes structural variant and read simulation for pipeline evaluation. The second objective is to analyse the phylogeny of Olduvai domains during evolution. The results indicate correct structural variant simulation and generation of the reads. The pipeline design is successful in the identification of simulated structural variants. Moreover, the evolutionary profile of Olduvai domains indicates high conservation in the ancestral copy and posterior diversification of the sequence in segmental duplicated regions. The study constitutes a preliminary approach on structural variation identification from long read datasets and highlights Olduvai domains as important actors in evolution from primates to humans.
Language: English
Appears in Collections:Bachelor thesis, research projects, etc.

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